MACHINE LEARNING TECHNIQUES USING CROSS-MODEL FINGERPRINTS FOR NOVEL PREDICTIVE TASKS

Various embodiments of the present invention provide methods, apparatus, systems, computing devices, computing entities, and/or the like for performing predictive data analysis. Certain embodiments of the present invention utilize systems, methods, and computer program products that perform predictive data analysis by using affirmative fingerprint distance measures and negative fingerprint distance measures.

BACKGROUND

Various embodiments of the present invention address technical challenges related to performing health-related predictive data analysis. Various embodiments of the present invention address the shortcomings of existing predictive data analysis systems and disclose various techniques for efficiently and reliably performing predictive data analysis.

BRIEF SUMMARY

In general, embodiments of the present invention provide methods, apparatus, systems, computing devices, computing entities, and/or the like for performing health-related predictive data analysis. Certain embodiments of the present invention utilize systems, methods, and computer program products that perform predictive data analysis by using affirmative fingerprint distance measures and negative fingerprint distance measures.

In accordance with one aspect, a method is provided. In one embodiment, the method comprises: for each existing task prediction machine learning model, processing the predictive input using the existing task prediction machine learning model to generate a per-model inferred representation for the predictive input; determining a cross-model inferred representation for the predictive input based at least in part on each per-model inferred representation; determining, based at least in part on the cross-model inferred representation and an affirmative cross-model fingerprint for the novel predictive task, an affirmative fingerprint distance measure for the predictive input, wherein the affirmative fingerprint distance measure is determined by: (i) for each affirmative-labeled predictive input of one or more affirmative-labeled predictive inputs associated with the novel predictive task, processing the affirmative-labeled predictive input using a plurality of existing task prediction machine learning models to generate a plurality of affirmative-labeled per-model inferred representations for the affirmative-labeled predictive input, and (ii) determining the affirmative fingerprint distance measure based at least in part on each plurality of affirmative-labeled per-model inferred representations; determine the predictive output based at least in part on the affirmative fingerprint distance measure; and performing one or more prediction-based actions based at least in part on the predictive output.

In accordance with another aspect, a computer program product is provided. The computer program product may comprise at least one computer-readable storage medium having computer-readable program code portions stored therein, the computer-readable program code portions comprising executable portions configured to: for each existing task prediction machine learning model, process the predictive input using the existing task prediction machine learning model to generate a per-model inferred representation for the predictive input; determine a cross-model inferred representation for the predictive input based at least in part on each per-model inferred representation; determine, based at least in part on the cross-model inferred representation and an affirmative cross-model fingerprint for the novel predictive task, an affirmative fingerprint distance measure for the predictive input, wherein the affirmative fingerprint distance measure is determined by: (i) for each affirmative-labeled predictive input of one or more affirmative-labeled predictive inputs associated with the novel predictive task, processing the affirmative-labeled predictive input using a plurality of existing task prediction machine learning models to generate a plurality of affirmative-labeled per-model inferred representations for the affirmative-labeled predictive input, and (ii) determining the affirmative fingerprint distance measure based at least in part on each plurality of affirmative-labeled per-model inferred representations; determine the predictive output based at least in part on the affirmative fingerprint distance measure; and perform one or more prediction-based actions based at least in part on the predictive output.

In accordance with yet another aspect, an apparatus comprising at least one processor and at least one memory including computer program code is provided. In one embodiment, the at least one memory and the computer program code may be configured to, with the processor, cause the apparatus to: for each existing task prediction machine learning model, process the predictive input using the existing task prediction machine learning model to generate a per-model inferred representation for the predictive input; determine a cross-model inferred representation for the predictive input based at least in part on each per-model inferred representation; determine, based at least in part on the cross-model inferred representation and an affirmative cross-model fingerprint for the novel predictive task, an affirmative fingerprint distance measure for the predictive input, wherein the affirmative fingerprint distance measure is determined by: (i) for each affirmative-labeled predictive input of one or more affirmative-labeled predictive inputs associated with the novel predictive task, processing the affirmative-labeled predictive input using a plurality of existing task prediction machine learning models to generate a plurality of affirmative-labeled per-model inferred representations for the affirmative-labeled predictive input, and (ii) determining the affirmative fingerprint distance measure based at least in part on each plurality of affirmative-labeled per-model inferred representations; determine the predictive output based at least in part on the affirmative fingerprint distance measure; and perform one or more prediction-based actions based at least in part on the predictive output.

DETAILED DESCRIPTION

I. Overview and Technical Advantages

Various embodiments of the present invention utilize existing machine learning models trained on existing predictive tasks to perform predictions with respect to novel predictive tasks. By doing so, various embodiments of the present invention enable techniques for performing novel predictive tasks, which in turn increases the operational throughput of predictive data analysis computing entities by decreasing the number of unsuccessful predictive tasks performed by the noted predictive data analysis computing entities. Moreover, by using the predictive knowledge embedded in trained existing machine learning models, various embodiments of the present invention reduce the amount of training iterations/data needed to train machine learning frameworks configured to perform predictions related to novel predictive tasks, thus decreasing computational load on predictive data analysis computing entities that are configured to perform predictions related to novel predictive tasks, and increasing computational efficiency and operational reliability of predictive data analysis computing entities. Through these ways, various embodiments of the present invention make important technical contributions to the field of predictive data analysis computing entities.

Various embodiments of the present invention use ML (ML) models trained on common traits/diseases to create “fingerprints” for rare disease data, and then use these “fingerprints” to identify individuals that may have a rare disease. The ML models may be trained to recognize the fingerprint of specific rare diseases as well as the common traits of a group of rare diseases. In some embodiments, a set of common disease prediction ML models are first generated. A system may use available data for common diseases and/or traits to generate risk score (e.g., a polygenic risk score (PRS)) using a ML method. In some embodiments, given N diseases/traits (N≥1), the output of the first stage will be one or more trained ML models, generating N risk scores for the N diseases. When individual's data is passed to these models, N scores may be generated and theith score represents the risk (or the likelihood) of a given individual being diagnosed with theith common disease/trait (1≤i≤N).

In some embodiments, rare disease fingerprints may be generated. This step/operation may be configured to use models trained in the first stage to produce fingerprints for the rare disease of interest by passing data available for the rare disease members though these models and generating scores for the rare disease members and/or internal activations inside the models. These generated scores and/or activations may then be considered as “fingerprints” or “signatures” that may help in identifying rare disease suspects in the future. The generated scores or activations can be used to extract “fingerprints” or “signatures” that may in turn be used to detect rare disease suspects.

In some embodiments, data for a case group comprising members diagnosed with a rare disease of interest and data for a control group comprising members not diagnosed with the rare disease of interest are provided to the set of trained common disease models to generate, for each member, a set of likelihood scores. Then, patterns across likelihood scores of case group members and control group members are combined to generate rare disease signatures, as well as signatures for families of rare diseases. The signatures can then be combined with demographic information to generate a rare disease prediction ML model for a rare disease of interest. The rare disease prediction model can then be used to generate a risk score for an individual that represents the likelihood of being diagnosed with the rare disease of interest.

The term “existing task prediction machine learning model” may refer to a data construct that describe parameters, hyper-parameters, and/or defined operations of a machine learning model that is configured to generate predictive outputs that correspond to an existing predictive task that is associated with the existing task prediction machine learning model. An example of an existing predictive task is a disease detection predictive task, such as generating probability scores that describe inferred probabilities that particular patient identifiers associated with particular predictive inputs suffer from a particular disease (e.g., a particular common disease). For example, in some embodiments, a particular existing task prediction machine learning model may be configured to process input feature data associated with a patient identifier to generate a probability score that describes an inferred likelihood that the patient identifier is suffering from a common disease that is associated with the particular existing task prediction machine learning model. In some embodiments, one objective of various embodiments of the present invention is to use intermediate output values and/or final output values generated by machine learning models configured to generate predictions in relation to common diseases in order to generate predictions in relation to rare diseases. In some embodiments, the input of an existing machine learning model is a vector or a matrix describing feature data associated with a predictive input, while the output of the existing machine learning model is a vector describing a per-model inferred representation for the noted predictive input.

The term “per-model inferred representation” may refer to a data construct that describes one or more values generated by an existing task prediction machine learning model with respect to a predictive input. In some embodiments, to generate a per-model inferred representation for a predictive input, an existing task prediction machine learning model processes input feature data associated with the predictive input in order to generate a set of values, and then determines the per-model inferred representation based at least in part on at least some of the set of values. In some embodiments, the set of values used to generate per-model inferred representations comprise final model output values and intermediate model output values (e.g., activation/excitation values such as activation input values and activation output values, heat map values, and/or the like). For example, in some embodiments, when an existing task prediction machine learning model (e.g., a classification machine learning model) is configured to process input feature data for a predictive input in order to generate, as the output of the final layer of the existing task prediction machine learning model, a set of final output values (e.g., a set of final output values each describing a predicted likelihood that the predictive input is associated with a classification of a set of candidate classifications associated with the existing task prediction machine learning model), then the per-model inferred representation for the predictive input may be determined based at least in part on at least a subset of the described set of final output values that is generated via processing the input feature data for the predictive input using the existing task prediction machine learning model. As another example, when an existing task prediction machine learning model (e.g., a fully-connected machine learning model) comprises a set of machine learning nodes each associated with a machine learning layer of a set of machine learning layers, where each particular machine learning node in an nth machine learning layer is configured to process at least some of the activation output values generated by the machine learning nodes in the (n−1)th machine learning layer based at least in part on trained parameters (e.g., weights and/or biases) of the particular machine learning node in order to generate an activation input value for the particular machine learning node and then process the activation input value using an activation function (e.g., a sigmoid activation function) in order to generate an activation output value for the particular machine learning node, then the per-model inferred representation for a predictive input may be determined based at least in part on at least one of: (i) at least some of the activation input values generated by the set of machine learning nodes during an inference of the existing machine learning model that is performed via processing the input feature data associated with the predictive input, or (ii) at least some of the activation output values generated by the set of machine learning nodes during an inference of the existing machine learning model that is performed via processing the input feature data associated with the predictive input.

The term “cross-model inferred representation” may refer to a data construct that describes a representation of a corresponding predictive input that is generated by combining (e.g., concatenating, summing, averaging, and/or the like) each per-model inferred representation for the corresponding predictive input. In some embodiments, to generate the cross-model inferred representation for a corresponding predictive input, defined features are extracted from a set of per-model inferred representations for the corresponding predictive input, and the defined features are then organized into a structure (e.g., a vector) that is associated with the cross-model inferred representation. In some embodiments, to generate the cross-model inferred representation for a corresponding predictive input, a set of per-model inferred representations for the corresponding predictive input are processed by an embedding machine learning model to generate the cross-model inferred representation for the corresponding predictive input.

The term “affirmative-labeled predictive input” may refer to a data construct that describes a predictive input (e.g., a data construct describing one or more features for one or more existing machine learning models) associated with an affirmative ground-truth label with respect to the novel predictive task. For example, if the novel predictive task comprises rare disease prediction, then an affirmative-labeled predictive input may comprise predictive input data for an individual that is associated with a ground-truth label describing that the individual suffers from the rare disease. As another example, if the novel predictive task comprises rare object detection in images, then an affirmative-labeled predictive input may comprise predictive input data for an image that is associated with a ground-truth label describing that the image includes the rare object.

The term “negative cross-model fingerprint” may refer to a data construct that describes is a predictive input associated with a negative ground-truth label with respect to the novel predictive task. For example, if the novel predictive task comprises rare disease prediction, then a negative-labeled predictive input may comprise predictive input data for an individual that is associated with a ground-truth label describing that the individual does not suffer from the rare disease. As another example, if the novel predictive task comprises rare object detection in images, then a negative-labeled predictive input may comprise predictive input data for an image that is associated with a ground-truth label describing that the image does not include the rare object.

The term “affirmative cross-model fingerprint” may refer to a data construct that describes a representation of a set of affirmative-labeled predictive inputs for a novel predictive task that is determined based at least in part on each cross-model inferred representation for the set of affirmative-labeled predictive inputs. For example, in some embodiments, given s cross-model inferred representations for s affirmative-labeled predictive inputs, the resulting affirmative cross-model fingerprint may be determined by combining (e.g., concatenating, summing, averaging, and/or the like) the s cross-model inferred representations. As another example, in some embodiments, given s cross-model inferred representations for s affirmative-labeled predictive inputs, the resulting affirmative cross-model fingerprint may be determined based at least in part on the output of a cross-model inferred representation combination machine learning model that is configured to process the s cross-model inferred representations to generate the affirmative cross-model fingerprint for the corresponding novel predictive task.

The term “affirmative fingerprint distance measure” may refer to a data construct that describes a distance measure for a cross-model inferred representation of a corresponding predictive input and an affirmative cross-model fingerprint of a corresponding novel predictive task. In some embodiments, to generate the affirmative fingerprint distance measure for a predictive input in relation to a novel predictive task, a distance measure (e.g., a Euclidean distance measure) is calculated between a vector representation of the cross-model inferred representation of the corresponding predictive input and a vector representation of the affirmative cross-model fingerprint of the corresponding novel predictive task. In some embodiments, the affirmative fingerprint distance measure for a predictive input in relation to a novel predictive task is determined based at least in part on the output of processing feature data associated with the cross-model inferred representation of the corresponding predictive input and feature data associated with the affirmative cross-model fingerprint of the corresponding novel predictive task using a distance calculation machine learning model.

The term “negative cross-model fingerprint” may refer to a data construct that describes a representation of a set of negative-labeled predictive inputs for a novel predictive task that is determined based at least in part on each cross-model inferred representation for the set of negative-labeled predictive inputs. For example, in some embodiments, given s cross-model inferred representations for s negative-labeled predictive inputs, the resulting negative cross-model fingerprint may be determined by combining (e.g., concatenating, summing, averaging, and/or the like) the s cross-model inferred representations. As another example, in some embodiments, given s cross-model inferred representations for s negative-labeled predictive inputs, the resulting negative cross-model fingerprint may be determined based at least in part on the output of a cross-model inferred representation combination machine learning model that is configured to process the s cross-model inferred representations to generate the negative cross-model fingerprint for the corresponding novel predictive task.

The term “negative fingerprint distance measure” may refer to a data construct that describes a distance measure for a cross-model inferred representation of a corresponding predictive input and a negative cross-model fingerprint of a corresponding novel predictive task. In some embodiments, to generate the negative fingerprint distance measure for a predictive input in relation to a novel predictive task, a distance measure (e.g., a Euclidean distance measure) is calculated between a vector representation of the cross-model inferred representation of the corresponding predictive input and a vector representation of the negative cross-model fingerprint of the corresponding novel predictive task. In some embodiments, the negative fingerprint distance measure for a predictive input in relation to a novel predictive task is determined based at least in part on the output of processing feature data associated with the cross-model inferred representation of the corresponding predictive input and feature data associated with the negative cross-model fingerprint of the corresponding novel predictive task using a distance calculation machine learning model.

The term “novel task prediction machine learning model” may refer to a data construct that describe parameters, hyper-parameters, and/or defined operations of a machine learning model that is configured to process the affirmative fingerprint distance measure for a predictive input and/or the negative fingerprint distance measure for the predictive input in order to generate the predictive output for the predictive input. Because the inputs of the novel task prediction machine learning model include the affirmative fingerprint distance measure for a predictive input and the negative fingerprint distance measure for the predictive input, the novel task prediction machine learning model may be configured to learn how to make predictions in relation to a novel predictive task based at least in part on inferences made in accordance with the outputs of other machine learning models not designed to make predictions in relation to the novel predictive task, including outputs for affirmative-labeled predictive inputs associated with the novel predictive task and negative-labeled predictive inputs associated with the novel predictive task. In some embodiments, inputs to a novel task prediction machine learning model include one or more vectors describing the affirmative fingerprint distance measure for a predictive input and/or the negative fingerprint distance measure for the predictive input, while the output of a novel task prediction machine learning model include one or more vectors describing the predictive output.

III. Computer Program Products, Methods, and Computing Entities

As should be appreciated, various embodiments of the present invention may also be implemented as methods, apparatus, systems, computing devices, computing entities, and/or the like. As such, embodiments of the present invention may take the form of an apparatus, system, computing device, computing entity, and/or the like executing instructions stored on a computer-readable storage medium to perform certain steps or operations. Thus, embodiments of the present invention may also take the form of an entirely hardware embodiment, an entirely computer program product embodiment, and/or an embodiment that comprises combination of computer program products and hardware performing certain steps or operations. Embodiments of the present invention are described below with reference to block diagrams and flowchart illustrations. Thus, it should be understood that each block of the block diagrams and flowchart illustrations may be implemented in the form of a computer program product, an entirely hardware embodiment, a combination of hardware and computer program products, and/or apparatus, systems, computing devices, computing entities, and/or the like carrying out instructions, operations, steps, and similar words used interchangeably (e.g., the executable instructions, instructions for execution, program code, and/or the like) on a computer-readable storage medium for execution. For example, retrieval, loading, and execution of code may be performed sequentially such that one instruction is retrieved, loaded, and executed at a time. In some exemplary embodiments, retrieval, loading, and/or execution may be performed in parallel such that multiple instructions are retrieved, loaded, and/or executed together. Thus, such embodiments can produce specifically configured machines performing the steps or operations specified in the block diagrams and flowchart illustrations. Accordingly, the block diagrams and flowchart illustrations support various combinations of embodiments for performing the specified instructions, operations, or steps.

IV. Exemplary System Architecture

FIG.1is a schematic diagram of an example architecture100for performing health-related predictive data analysis. The architecture100includes a predictive data analysis system101configured to receive health-related predictive data analysis requests from external computing entities102, process the predictive data analysis requests to generate health-related risk predictions, provide the generated health-related risk predictions to the external computing entities102, and automatically perform prediction-based actions based at least in part on the generated polygenic risk score predictions. Examples of health-related predictions include genetic risk predictions, polygenic risk predictions, medical risk predictions, clinical risk predictions, behavioral risk predictions, and/or the like.

In some embodiments, predictive data analysis system101may communicate with at least one of the external computing entities102using one or more communication networks. Examples of communication networks include any wired or wireless communication network including, for example, a wired or wireless local area network (LAN), personal area network (PAN), metropolitan area network (MAN), wide area network (WAN), or the like, as well as any hardware, software and/or firmware required to implement it (such as, e.g., network routers, and/or the like).

The predictive data analysis system101may include a predictive data analysis computing entity106and a storage subsystem108. The predictive data analysis computing entity106may be configured to receive health-related predictive data analysis requests from one or more external computing entities102, process the predictive data analysis requests to generate the polygenic risk score predictions corresponding to the predictive data analysis requests, provide the generated polygenic risk score predictions to the external computing entities102, and automatically perform prediction-based actions based at least in part on the generated polygenic risk score predictions.

The storage subsystem108may be configured to store input data used by the predictive data analysis computing entity106to perform health-related predictive data analysis as well as model definition data used by the predictive data analysis computing entity106to perform various health-related predictive data analysis tasks. The storage subsystem108may include one or more storage units, such as multiple distributed storage units that are connected through a computer network. Each storage unit in the storage subsystem108may store at least one of one or more data assets and/or one or more data about the computed properties of one or more data assets. Moreover, each storage unit in the storage subsystem108may include one or more non-volatile storage or memory media including but not limited to hard disks, ROM, PROM, EPROM, EEPROM, flash memory, MMCs, SD memory cards, Memory Sticks, CBRAM, PRAM, FeRAM, NVRAM, MRAM, RRAM, SONOS, FJG RAM, Millipede memory, racetrack memory, and/or the like.

Exemplary Predictive Data Analysis Computing Entity

As indicated, in one embodiment, the predictive data analysis computing entity106may also include one or more communications interfaces220for communicating with various computing entities, such as by communicating data, content, information, and/or similar terms used herein interchangeably that can be transmitted, received, operated on, processed, displayed, stored, and/or the like.

As shown inFIG.2, in one embodiment, the predictive data analysis computing entity106may include or be in communication with one or more processing elements205(also referred to as processors, processing circuitry, and/or similar terms used herein interchangeably) that communicate with other elements within the predictive data analysis computing entity106via a bus, for example. As will be understood, the processing element205may be embodied in a number of different ways.

As will therefore be understood, the processing element205may be configured for a particular use or configured to execute instructions stored in volatile or non-volatile media or otherwise accessible to the processing element205. As such, whether configured by hardware or computer program products, or by a combination thereof, the processing element205may be capable of performing steps or operations according to embodiments of the present invention when configured accordingly.

As will be recognized, the volatile storage or memory media may be used to store at least portions of the databases, database instances, database management systems, data, applications, programs, program modules, scripts, source code, object code, byte code, compiled code, interpreted code, machine code, executable instructions, and/or the like being executed by, for example, the processing element205. Thus, the databases, database instances, database management systems, data, applications, programs, program modules, scripts, source code, object code, byte code, compiled code, interpreted code, machine code, executable instructions, and/or the like may be used to control certain aspects of the operation of the predictive data analysis computing entity106with the assistance of the processing element205and operating system.

Exemplary External Computing Entity

FIG.3provides an illustrative schematic representative of an external computing entity102that can be used in conjunction with embodiments of the present invention. In general, the terms device, system, computing entity, entity, and/or similar words used herein interchangeably may refer to, for example, one or more computers, computing entities, desktops, mobile phones, tablets, phablets, notebooks, laptops, distributed systems, kiosks, input terminals, servers or server networks, blades, gateways, switches, processing devices, processing entities, set-top boxes, relays, routers, network access points, base stations, the like, and/or any combination of devices or entities adapted to perform the functions, operations, and/or processes described herein. External computing entities102can be operated by various parties. As shown inFIG.3, the external computing entity102can include an antenna312, a transmitter304(e.g., radio), a receiver306(e.g., radio), and a processing element308(e.g., CPLDs, microprocessors, multi-core processors, coprocessing entities, ASIPs, microcontrollers, and/or controllers) that provides signals to and receives signals from the transmitter304and receiver306, correspondingly.

The signals provided to and received from the transmitter304and the receiver306, correspondingly, may include signaling information/data in accordance with air interface standards of applicable wireless systems. In this regard, the external computing entity102may be capable of operating with one or more air interface standards, communication protocols, modulation types, and access types. More particularly, the external computing entity102may operate in accordance with any of a number of wireless communication standards and protocols, such as those described above with regard to the predictive data analysis computing entity106. In a particular embodiment, the external computing entity102may operate in accordance with multiple wireless communication standards and protocols, such as UMTS, CDMA2000, 1xRTT, WCDMA, GSM, EDGE, TD-SCDMA, LTE, E-UTRAN, EVDO, HSPA, HSDPA, Wi-Fi, Wi-Fi Direct, WiMAX, UWB, IR, NFC, Bluetooth, USB, and/or the like. Similarly, the external computing entity102may operate in accordance with multiple wired communication standards and protocols, such as those described above with regard to the predictive data analysis computing entity106via a network interface320.

Via these communication standards and protocols, the external computing entity102can communicate with various other entities using concepts such as Unstructured Supplementary Service Data (USSD), Short Message Service (SMS), Multimedia Messaging Service (MMS), Dual-Tone Multi-Frequency Signaling (DTMF), and/or Subscriber Identity Module Dialer (SIM dialer). The external computing entity102can also download changes, add-ons, and updates, for instance, to its firmware, software (e.g., including executable instructions, applications, program modules), and operating system.

The external computing entity102may also comprise a user interface (that can include a display316coupled to a processing element308) and/or a user input interface (coupled to a processing element308). For example, the user interface may be a user application, browser, user interface, and/or similar words used herein interchangeably executing on and/or accessible via the external computing entity102to interact with and/or cause display of information/data from the predictive data analysis computing entity106, as described herein. The user input interface can comprise any of a number of devices or interfaces allowing the external computing entity102to receive data, such as a keypad318(hard or soft), a touch display, voice/speech or motion interfaces, or other input device. In embodiments including a keypad318, the keypad318can include (or cause display of) the conventional numeric (0-9) and related keys (#, *), and other keys used for operating the external computing entity102and may include a full set of alphabetic keys or set of keys that may be activated to provide a full set of alphanumeric keys. In addition to providing input, the user input interface can be used, for example, to activate or deactivate certain functions, such as screen savers and/or sleep modes.

In another embodiment, the external computing entity102may include one or more components or functionality that are the same or similar to those of the predictive data analysis computing entity106, as described in greater detail above. As will be recognized, these architectures and descriptions are provided for exemplary purposes only and are not limiting to the various embodiments.

V. Exemplary System Operations

As described below, various embodiments of the present invention utilize existing machine learning models trained on existing predictive tasks (e.g., common disease prediction tasks) to perform predictions with respect to novel predictive tasks (e.g., rare disease prediction tasks). By doing so, various embodiments of the present invention enable techniques for performing novel predictive tasks, which in turn increases the operational throughput of predictive data analysis computing entities by decreasing the number of unsuccessful predictive tasks performed by the noted predictive data analysis computing entities. Moreover, by using the predictive knowledge embedded in trained existing machine learning models, various embodiments of the present invention reduce the amount of training iterations/data needed to train machine learning frameworks configured to perform predictions related to novel predictive tasks, thus decreasing computational load on predictive data analysis computing entities that are configured to perform predictions related to novel predictive tasks, and increasing computational efficiency and operational reliability of predictive data analysis computing entities. Through these ways, various embodiments of the present invention make important technical contributions to the field of predictive data analysis computing entities.

FIG.4is a flowchart diagram of an example process400for determining a predictive output for a predictive input in relation to a novel predictive task. Via the various steps/operations of the process400, the predictive data analysis computing entity106can use a plurality of existing task prediction machine learning models associated with a plurality of existing predictive tasks to generate a predictive output for a novel predictive task that is distinct from the plurality of existing predictive tasks.

The process400begins at step/operation401when the predictive data analysis computing entity106processes the predictive input using a plurality of existing task prediction machine learning models to generate a plurality of per-model inferred representations. In some embodiments, for each existing task prediction machine learning model of the plurality of existing task prediction machine learning models, the predictive data analysis computing entity106processes the predictive input using the existing task prediction machine learning model to generate a per-model inferred representation for the predictive input. In some embodiments, processing a predictive input using a machine learning model comprises: (i) extracting input feature data from the predictive input corresponding to an expected input structure of the input for the machine learning model, and (ii) processing the input feature data based at least in part on the trained parameters and defined operations of the machine learning model to generate a per-model predictive output for the predictive input and the particular machine learning model.

In some embodiments, an existing task prediction machine learning model is a machine learning model that is configured to generate predictive outputs that correspond to an existing predictive task that is associated with the existing task prediction machine learning model. An example of an existing predictive task is a disease detection predictive task, such as generating probability scores that describe inferred probabilities that particular patient identifiers associated with particular predictive inputs suffer from a particular disease (e.g., a particular common disease). For example, in some embodiments, a particular existing task prediction machine learning model may be configured to process input feature data associated with a patient identifier to generate a probability score that describes an inferred likelihood that the patient identifier is suffering from a common disease that is associated with the particular existing task prediction machine learning model. In some embodiments, one objective of various embodiments of the present invention is to use intermediate output values and/or final output values generated by machine learning models configured to generate predictions in relation to common diseases in order to generate predictions in relation to rare diseases.

In some embodiments, a per-model inferred representation comprises one or more values generated by an existing task prediction machine learning model with respect to a predictive input. In some embodiments, to generate a per-model inferred representation for a predictive input, an existing task prediction machine learning model processes input feature data associated with the predictive input in order to generate a set of values, and then determines the per-model inferred representation based at least in part on at least some of the set of values. In some embodiments, the set of values used to generate per-model inferred representations comprise one or more final model output values and one or more intermediate model output values (e.g., activation/excitation values such as activation input values and activation output values, heat map values, and/or the like).

For example, in some embodiments, when an existing task prediction machine learning model (e.g., a classification machine learning model) is configured to process input feature data for a predictive input in order to generate, as the output of the final layer of the existing task prediction machine learning model, a set of final output values (e.g., a set of final output values each describing a predicted likelihood that the predictive input is associated with a classification of a set of candidate classifications associated with the existing task prediction machine learning model), then the per-model inferred representation for the predictive input may be determined based at least in part on at least a subset of the described set of final output values that is generated via processing the input feature data for the predictive input using the existing task prediction machine learning model.

As another example, when an existing task prediction machine learning model (e.g., a feed forward machine learning model, such as fully-connected feed forward machine learning model) comprises a set of machine learning nodes each associated with a machine learning layer of a set of machine learning layers, where each particular machine learning node in an nth machine learning layer is configured to process at least some of the activation output values generated by the machine learning nodes in the (n−1)th machine learning layer based at least in part on trained parameters (e.g., weights and/or biases) of the particular machine learning node in order to generate an activation input value for the particular machine learning node and then process the activation input value using an activation function (e.g., a sigmoid activation function) in order to generate an activation output value for the particular machine learning node, then the per-model inferred representation for a predictive input may be determined based at least in part on at least one of: (i) at least some of the activation input values generated by the set of machine learning nodes during an inference of the existing machine learning model that is performed via processing the input feature data associated with the predictive input, or (ii) at least some of the activation output values generated by the set of machine learning nodes during an inference of the existing machine learning model that is performed via processing the input feature data associated with the predictive input.

As yet another example, when an existing task prediction machine learning model (e.g., a convolutional neural network machine learning model) comprises a set of one or more machine learning layers that are configured to generate one or more heat map representations of input feature data associated with a predictive input, then the per-model inferred representation for the predictive input may be determined based at least in part on at least one of the values associated with at least one of the noted heat map representations.

As a further example, when an existing task prediction machine learning model (e.g., a recurrent neural network machine learning model, such as a long short term memory machine learning model) operates using a sequence of timesteps, where during each timestep the existing task prediction machine learning model is configured to process a given hidden state vector (e.g., for the first timestep a default timestep vector and for every subsequent timestep an updated hidden state vector of a preceding timestep) and a segment of a predictive input that corresponds to the timestep to generate an updated hidden state vector, then the per-model inferred representation for the predictive input may be determined based at least in part on at least a subset of the set of updated hidden state vectors that are generated by the existing task prediction machine learning model during the set of timesteps.

As discussed above, in some embodiments, the per-model inferred representation for a particular existing task prediction machine learning model in relation a predictive input may be generated based at least in part on at least one: (i) one or more final output values generated by the particular existing task prediction machine learning model that is generated via processing feature data associated with the predictive input, and (ii) one or more intermediate output values generated by the particular existing task prediction machine learning model that is generated via processing feature data associated with the predictive input. In some embodiments, a set of defined (final and/or intermediate) output values generated by the particular existing task prediction machine learning model that is generated via processing feature data associated with the predictive input are provided to a cross-output embedding machine learning model that is configured to process the set of defined output values to generate the per-model inferred representation for the particular existing task prediction machine learning model in relation the predictive input.

At step/operation402, the predictive data analysis computing entity106determines a cross-model inferred representation of the predictive input based at least in part on each per-model inferred representation that is generated at step/operation401. A cross-model inferred representation may describe a representation of a corresponding predictive input that is generated by combining (e.g., concatenating, summing, averaging, and/or the like) each per-model inferred representation for the corresponding predictive input. In some embodiments, to generate the cross-model inferred representation for a corresponding predictive input, defined features are extracted from a set of per-model inferred representations for the corresponding predictive input, and the defined features are then organized into a structure (e.g., a vector) that is associated with the cross-model inferred representation. In some embodiments, to generate the cross-model inferred representation for a corresponding predictive input, a set of per-model inferred representations for the corresponding predictive input are processed by an embedding machine learning model to generate the cross-model inferred representation for the corresponding predictive input.

At step/operation403, the predictive data analysis computing entity106generates the predictive output based at least in part on the cross-model inferred representation that is generated at step/operation401. In some embodiments, to generate the predictive output, the predictive data analysis computing entity106first determines (i) an affirmative fingerprint distance measure as a distance measure for the cross-model inferred representation and an affirmative cross-model fingerprint for the novel predictive task, and (ii) a negative fingerprint distance measure as a distance measure for the cross-model inferred representation and a negative cross-model fingerprint for the novel predictive task, and then determines the predictive output based at least in part on the affirmative fingerprint distance measure and the negative fingerprint distance measure. In some embodiments, to generate the predictive output, the predictive data analysis computing entity106first determines an affirmative fingerprint distance measure as a distance measure for the cross-model inferred representation and an affirmative cross-model fingerprint for the novel predictive task, and then determines the predictive output based at least in part on the affirmative fingerprint distance measure. In some embodiments, to generate the predictive output, the predictive data analysis computing entity106first determines a negative fingerprint distance measure as a distance measure for the cross-model inferred representation and a negative cross-model fingerprint for the novel predictive task, and then determines the predictive output based at least in part on the negative fingerprint distance measure.

By generating predictive outputs in the manner described above, various embodiments of the present invention utilize existing machine learning models trained on existing predictive tasks to perform predictions with respect to novel predictive tasks. By doing so, various embodiments of the present invention enable techniques for performing novel predictive tasks, which in turn increases the operational throughput of predictive data analysis computing entities by decreasing the number of unsuccessful predictive tasks performed by the noted predictive data analysis computing entities. Moreover, by using the predictive knowledge embedded in trained existing machine learning models, various embodiments of the present invention reduce the amount of training iterations/data needed to train machine learning frameworks configured to perform predictions related to novel predictive tasks, thus decreasing computational load on predictive data analysis computing entities that are configured to perform predictions related to novel predictive tasks, and increasing computational efficiency and operational reliability of predictive data analysis computing entities. Through these ways, various embodiments of the present invention make important technical contributions to the field of predictive data analysis computing entities.

In some embodiments, step/operation403may be performed in accordance with the process that is depicted inFIG.5. The process that is depicted inFIG.5begins when the predictive data analysis computing entity106identifies a set of affirmative-labeled predictive inputs501, where each affirmative-labeled predictive input is a predictive input associated with an affirmative ground-truth label with respect to the novel predictive task. For example, if the novel predictive task comprises rare disease prediction, then an affirmative-labeled predictive input may comprise predictive input data for an individual that is associated with a ground-truth label describing that the individual suffers from the rare disease. As another example, if the novel predictive task comprises rare object detection in images, then an affirmative-labeled predictive input may comprise predictive input data for an image that is associated with a ground-truth label describing that the image includes the rare object.

The process that is depicted inFIG.5continues when the predictive data analysis computing entity106identifies a set of negative-labeled predictive inputs502, where each negative-labeled predictive input is a predictive input associated with a negative ground-truth label with respect to the novel predictive task. For example, if the novel predictive task comprises rare disease prediction, then a negative-labeled predictive input may comprise predictive input data for an individual that is associated with a ground-truth label describing that the individual does not suffer from the rare disease. As another example, if the novel predictive task comprises rare object detection in images, then a negative-labeled predictive input may comprise predictive input data for an image that is associated with a ground-truth label describing that the image does not include the rare object.

The process that is depicted inFIG.5continues when the predictive data analysis computing entity106determines an affirmative fingerprint distance measure511based at least in part on the set of affirmative-labeled predictive inputs501and the cross-model inferred representation503. In particular, the predictive data analysis computing entity106may perform the following operations: (i) for each affirmative-labeled predictive input: (a) processing the input feature data for the affirmative-labeled predictive input using the existing task prediction machine learning models521to generate a set of per-model inferred representations for the affirmative-labeled predictive input (where each existing task prediction machine learning model generates a separate per-model inferred representation for the particular affirmative-labeled predictive input via processing input feature data for the affirmative-labeled predictive input), and (b) generating a cross-model inferred representation for the affirmative-labeled predictive input by combining the set of per-model inferred representations for the affirmative-labeled predictive input, (ii) determining an affirmative cross-model fingerprint based at least in part on the set of cross-model inferred representations for the set of affirmative-labeled predictive inputs501, and (iii) determining the affirmative fingerprint distance measure511based at least in part on a measure of distance between the cross-model inferred representation503and the affirmative cross-model fingerprint.

An affirmative cross-model fingerprint may describe a representation of a set of affirmative-labeled predictive inputs for a novel predictive task that is determined based at least in part on each cross-model inferred representation for the set of affirmative-labeled predictive inputs. For example, in some embodiments, given s cross-model inferred representations for s affirmative-labeled predictive inputs, the resulting affirmative cross-model fingerprint may be determined by combining (e.g., concatenating, summing, averaging, and/or the like) the s cross-model inferred representations. As another example, in some embodiments, given s cross-model inferred representations for s affirmative-labeled predictive inputs, the resulting affirmative cross-model fingerprint may be determined based at least in part on the output of a cross-model inferred representation combination machine learning model that is configured to process the s cross-model inferred representations to generate the affirmative cross-model fingerprint for the corresponding novel predictive task.

An affirmative fingerprint distance measure may describe a distance measure for a cross-model inferred representation of a corresponding predictive input and an affirmative cross-model fingerprint of a corresponding novel predictive task. In some embodiments, to generate the affirmative fingerprint distance measure for a predictive input in relation to a novel predictive task, a distance measure (e.g., a Euclidean distance measure) is calculated between a vector representation of the cross-model inferred representation of the corresponding predictive input and a vector representation of the affirmative cross-model fingerprint of the corresponding novel predictive task. In some embodiments, the affirmative fingerprint distance measure for a predictive input in relation to a novel predictive task is determined based at least in part on the output of processing feature data associated with the cross-model inferred representation of the corresponding predictive input and feature data associated with the affirmative cross-model fingerprint of the corresponding novel predictive task using a distance calculation machine learning model.

The process that is depicted inFIG.5continues when the predictive data analysis computing entity106determines a negative fingerprint distance measure512based at least in part on the set of negative-labeled predictive inputs502and the cross-model inferred representation503. In particular, the predictive data analysis computing entity106may perform the following operations: (i) for each negative-labeled predictive input: (a) processing the input feature data for the negative-labeled predictive input using the existing task prediction machine learning models521to generate a set of per-model inferred representations for the negative-labeled predictive input (where each existing task prediction machine learning model generates a separate per-model inferred representation for the particular negative-labeled predictive input via processing input feature data for the negative-labeled predictive input), and (b) generating a cross-model inferred representation for the negative-labeled predictive input by combining the set of per-model inferred representations for the negative-labeled predictive input, (ii) determining a negative cross-model fingerprint based at least in part on the set of cross-model inferred representations for the set of negative-labeled predictive inputs502, and (iii) determining the negative fingerprint distance measure512based at least in part on a measure of distance between the cross-model inferred representation503and the negative cross-model fingerprint.

A negative cross-model fingerprint may describe a representation of a set of negative-labeled predictive inputs for a novel predictive task that is determined based at least in part on each cross-model inferred representation for the set of negative-labeled predictive inputs. For example, in some embodiments, given s cross-model inferred representations for s negative-labeled predictive inputs, the resulting negative cross-model fingerprint may be determined by combining (e.g., concatenating, summing, averaging, and/or the like) the s cross-model inferred representations. As another example, in some embodiments, given s cross-model inferred representations for s negative-labeled predictive inputs, the resulting negative cross-model fingerprint may be determined based at least in part on the output of a cross-model inferred representation combination machine learning model that is configured to process the s cross-model inferred representations to generate the negative cross-model fingerprint for the corresponding novel predictive task.

A negative fingerprint distance measure may describe a distance measure for a cross-model inferred representation of a corresponding predictive input and a negative cross-model fingerprint of a corresponding novel predictive task. In some embodiments, to generate the negative fingerprint distance measure for a predictive input in relation to a novel predictive task, a distance measure (e.g., a Euclidean distance measure) is calculated between a vector representation of the cross-model inferred representation of the corresponding predictive input and a vector representation of the negative cross-model fingerprint of the corresponding novel predictive task. In some embodiments, the negative fingerprint distance measure for a predictive input in relation to a novel predictive task is determined based at least in part on the output of processing feature data associated with the cross-model inferred representation of the corresponding predictive input and feature data associated with the negative cross-model fingerprint of the corresponding novel predictive task using a distance calculation machine learning model.

The process that is depicted inFIG.5continues when a novel task prediction machine learning model531processes the affirmative fingerprint distance measure511and the negative fingerprint distance measure512optionally along with augmentation features541(e.g., demographic features) of the predictive input in order to generate the predictive output551. The novel task prediction machine learning model may be configured to process the affirmative fingerprint distance measure for a predictive input and the negative fingerprint distance measure for the predictive input in order to generate the predictive output for the predictive input. Because the inputs of the novel task prediction machine learning model include the affirmative fingerprint distance measure for a predictive input and the negative fingerprint distance measure for the predictive input, the novel task prediction machine learning model may be configured to learn how to make predictions in relation to a novel predictive task based at least in part on inferences made in accordance with the outputs of other machine learning models not designed to make predictions in relation to the novel predictive task, including outputs for affirmative-labeled predictive inputs associated with the novel predictive task and negative-labeled predictive inputs associated with the novel predictive task.

Returning toFIG.4, at step/operation404, the predictive data analysis computing entity106performs one or more prediction-based actions based at least in part on the predictive output. Examples of prediction-based actions including displaying a user interface that displays health-related risk predictions (e.g., at least one of epistatic polygenic risk scores, epistatic interaction scores, and base polygenic risk scores) for a target individual with respect to a set of conditions. For example, as depicted inFIG.6, the predictive output user interface600depicts the health-related risk prediction for a target individual with respect to four target conditions each identified by the International Statistical Classification of Diseases and Related Health Problems (ICD) code of the noted four target conditions.

Other examples of prediction-based actions include one or more optimized scheduling operations for medical appointments scheduled when health-related risk predictions indicate a need for scheduling medical appointment (e.g., a disease score described by the predictive output for a rare disease predictive task satisfies a disease score threshold). examples of optimized scheduling operations include automatically scheduling appointments and automatically generating/triggering appointment notifications. In some embodiments, performing optimized scheduling operations includes automated system load balancing operations and/or automated staff allocation management operations. For example, an optimized appointment prediction system may automatically and/or dynamically process a plurality of event data objects in order to generate optimized appointment predictions for a plurality of patients requiring appointments with one or more providers. As another example, the optimized appointment prediction system may account for patient and/or provider availability on particular days and at particular times. In another example, the optimized appointment prediction system may reassign patients on a schedule in response to receiving real-time information, such as an instance in which a provider is suddenly unavailable due to an emergency or unplanned event/occurrence. Additionally, in some embodiments, the optimized appointment prediction system may be used in conjunction with an Electronic Health Record (EHR) system that is accessible by patients and providers to recommend a particular provider and/or automatically schedule an appointment with a particular provider in response to a request initiated by a patient. In some embodiments, the optimized appointment prediction system may aggregate a plurality of requests (e.g., from patients and/or providers) and generate one or more schedules in response to determining that a threshold number of requests have been received.

In another example, performing optimized scheduling operations includes providing additional appointment information/data (e.g., travel information, medication information, provider information, patient information and/or the like). By way of example, the optimized appointment prediction system may automatically provide pre-generated travel directions for navigating to and returning from an appointment location based at least in part on expected travel patterns at an expected end-time of the appointment. In some embodiments, the pre-generated travel directions may be based at least in part on analysis of travel patterns associated with a plurality of patients that have had appointments with a particular provider and/or at a particular location within a predefined time period.

In some embodiments, performing the optimized scheduling operations includes performing system load balancing operations for a medical record keeping system. For example, upon detecting that a medical appointment takes x minutes, computing resources of a medical record keeping system may be reassigned to ensure that adequate resources are available in order to facilitate medical record keeping as well as retrieval of data during the medical visit. In some embodiments, performing the optimized scheduling operations includes may detect that an appointment ends at a particular time, and provide optimal driving directions for post-appointment trip given expected traffic conditions at the particular time.

As described above, various embodiments of the present invention utilize existing machine learning models trained on existing predictive tasks to perform predictions with respect to novel predictive tasks. By doing so, various embodiments of the present invention enable techniques for performing novel predictive tasks, which in turn increases the operational throughput of predictive data analysis computing entities by decreasing the number of unsuccessful predictive tasks performed by the noted predictive data analysis computing entities. Moreover, by using the predictive knowledge embedded in trained existing machine learning models, various embodiments of the present invention reduce the amount of training iterations/data needed to train machine learning frameworks configured to perform predictions related to novel predictive tasks, and increasing computational efficiency and operational reliability of predictive data analysis computing entities. Through these ways, various embodiments of the present invention make important technical contributions to the field of predictive data analysis computing entities.

Moreover, various embodiments of the present invention use ML (ML) models trained on common traits/diseases to create “fingerprints” for rare disease data, and then use these “fingerprints” to identify individuals that may have a rare disease. The ML models may be trained to recognize the fingerprint of specific rare diseases as well as the common traits of a group of rare diseases. In some embodiments, data for a case group comprising members diagnosed with a rare disease of interest and data for a control group comprising members not diagnosed with the rare disease of interest are provided to a set of trained common disease models to generate, for each member, a set of likelihood scores. Then, patterns across likelihood scores of case group members and control group members are combined to generate rare disease signatures, as well as signatures for families of rare diseases. The signatures can then be combined with demographic information to generate a rare disease prediction ML model for a rare disease of interest. The rare disease prediction model can then be used to generate a risk score for an individual that represents the likelihood of being diagnosed with the rare disease of interest.