PATENT CLAIM ANALYSIS

Application Number: 15872731
Application Type: Utility
Filing Date: 2018-01
Publication Date: 2019-01
Patent Classification: ["702", "019000"]

Abstract:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which are received genomic sequence reads derived from a biological sample obtained from a user. The platform also includes a bioinformatics processing pipeline including a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, a variant calling module operative to identify observed variants in the observed sequence data, and a variant refinement module for producing genotype data including a set of refined variants associated with the user. A variant imputation module produces a set of imputed variants associated with the user, and is configured to receive, as input, at least some of the genotype data and separate the genotype data into high-quality and low-quality genotypes based on a genotype quality.

Claim (Index 13):
A non-transitory machine-readable medium comprising instructions that, when executed by one or more processors of a machine, cause the machine to perform operations comprising:\n receiving genomic sequence reads of a user, the genomic sequence reads of the user being generated by genomic sequencing equipment based on a biological sample provided by the user; aligning the received genomic sequence reads of the user to a reference human genome; identifying genomic variants of the user based on a comparison of the aligned sequence reads of the user to the reference human genome; generating a pre-imputation file that corresponds to the user and specifies genotypes of the user, the pre-imputation file specifying the genotypes of the user by specifying the identified genomic variants of the user, the pre-imputation file indicating a high-quality subset of genotypes whose error probabilities do not transgress a predetermined threshold probability, the pre-imputation file indicating a low-quality subset of genotypes whose error probabilities transgress the predetermined threshold probability; performing a first imputation that adds first additional genotypes to the genotypes specified in the pre-imputation file based on the high-quality subset of genotypes and without influence from the low-quality subset of genotypes, the first imputation modifying at least some of the error probabilities of the low-quality subset of genotypes; performing a second imputation that adds second additional genotypes to the genotypes specified in the pre-imputation file based on both the high-quality subset of genotypes whose error probabilities do not transgress the predetermined threshold probability and the low-quality subset of genotypes at least some of whose error probabilities were modified by the performed first imputation; and generating a post-imputation file that corresponds to the user, specifies the genotypes specified in the pre-imputation file, and further specifies the first and second additional genotypes of the user, based on the performed first and second imputations.

Metadata:
- Claim Count in Document: 1.0
- Percentile: 86.0
- Lexical Diversity: 1.82353
- Patent Class: 702.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['15872655', '15052354', '15497149', '15643381', '13445925']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.1398214055796659
- 35 USC 102 Novelty (BERT): 0.5585493834035206
- Combined Prediction Score: 0.1816942033620514
- Mean Citation Score: 232.627294
- Max Citation Score: 422.40225
- Similarity Product: 361.0928017203212

Labels:
- Claim Label 101: 1
- Claim Label 102: 1
- Claim Label 103: 0
- Claim Label 112: 0
- Combined Label: 1
- Label 101 Adjusted: 1

Dataset: test