Moussab/ORKG-training-evaluation-set huggingface dataset:
Research field: Bioinformatics
Title: CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Abstract: Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this approach has limitations in the case of targeted re-sequencing, which leaves gaps in coverage between the regions chosen for enrichment and introduces biases related to the efficiency of target capture and library preparation. We present a method for copy number detection, implemented in the software package CNVkit, that uses both the targeted reads and the nonspecifically captured off-target reads to infer copy number evenly across the genome. This combination achieves both exon-level resolution in targeted regions and sufficient resolution in the larger intronic and intergenic regions to identify copy number changes. In particular, we successfully inferred copy number at equivalent to 100-kilobase resolution genome-wide from a platform targeting as few as 293 genes. After normalizing read counts to a pooled reference, we evaluated and corrected for three sources of bias that explain most of the extraneous variability in the sequencing read depth: GC content, target footprint size and spacing, and repetitive sequences. We compared the performance of CNVkit to copy number changes identified by array comparative genomic hybridization. We packaged the components of CNVkit so that it is straightforward to use and provides visualizations, detailed reporting of significant features, and export options for integration into existing analysis pipelines. CNVkit is freely available from https://github.com/etal/cnvkit.
Extracted statement — creates: CNVkit
Research field: Bioinformatics
Title: CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Abstract: Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this approach has limitations in the case of targeted re-sequencing, which leaves gaps in coverage between the regions chosen for enrichment and introduces biases related to the efficiency of target capture and library preparation. We present a method for copy number detection, implemented in the software package CNVkit, that uses both the targeted reads and the nonspecifically captured off-target reads to infer copy number evenly across the genome. This combination achieves both exon-level resolution in targeted regions and sufficient resolution in the larger intronic and intergenic regions to identify copy number changes. In particular, we successfully inferred copy number at equivalent to 100-kilobase resolution genome-wide from a platform targeting as few as 293 genes. After normalizing read counts to a pooled reference, we evaluated and corrected for three sources of bias that explain most of the extraneous variability in the sequencing read depth: GC content, target footprint size and spacing, and repetitive sequences. We compared the performance of CNVkit to copy number changes identified by array comparative genomic hybridization. We packaged the components of CNVkit so that it is straightforward to use and provides visualizations, detailed reporting of significant features, and export options for integration into existing analysis pipelines. CNVkit is freely available from https://github.com/etal/cnvkit.
Extracted statement — deposits: CNVkit
Research field: Bioinformatics
Title: COBRAme: A computational framework for genome-scale models of metabolism and gene expression
Abstract: Genome-scale models of metabolism and macromolecular expression (ME-models) explicitly compute the optimal proteome composition of a growing cell. ME-models expand upon the well-established genome-scale models of metabolism (M-models), and they enable a new fundamental understanding of cellular growth. ME-models have increased predictive capabilities and accuracy due to their inclusion of the biosynthetic costs for the machinery of life, but they come with a significant increase in model size and complexity. This challenge results in models which are both difficult to compute and challenging to understand conceptually. As a result, ME-models exist for only two organisms (Escherichia coli and Thermotoga maritima) and are still used by relatively few researchers. To address these challenges, we have developed a new software framework called COBRAme for building and simulating ME-models. It is coded in Python and built on COBRApy, a popular platform for using M-models. COBRAme streamlines computation and analysis of ME-models. It provides tools to simplify constructing and editing ME-models to enable ME-model reconstructions for new organisms. We used COBRAme to reconstruct a condensed E. coli ME-model called iJL1678b-ME. This reformulated model gives functionally identical solutions to previous E. coli ME-models while using 1/6 the number of free variables and solving in less than 10 minutes, a marked improvement over the 6 hour solve time of previous ME-model formulations. Errors in previous ME-models were also corrected leading to 52 additional genes that must be expressed in iJL1678b-ME to grow aerobically in glucose minimal in silico media. This manuscript outlines the architecture of COBRAme and demonstrates how ME-models can be created, modified, and shared most efficiently using the new software framework.
Extracted statement — creates: COBRAme
Research field: Bioinformatics
Title: COBRAme: A computational framework for genome-scale models of metabolism and gene expression
Abstract: Genome-scale models of metabolism and macromolecular expression (ME-models) explicitly compute the optimal proteome composition of a growing cell. ME-models expand upon the well-established genome-scale models of metabolism (M-models), and they enable a new fundamental understanding of cellular growth. ME-models have increased predictive capabilities and accuracy due to their inclusion of the biosynthetic costs for the machinery of life, but they come with a significant increase in model size and complexity. This challenge results in models which are both difficult to compute and challenging to understand conceptually. As a result, ME-models exist for only two organisms (Escherichia coli and Thermotoga maritima) and are still used by relatively few researchers. To address these challenges, we have developed a new software framework called COBRAme for building and simulating ME-models. It is coded in Python and built on COBRApy, a popular platform for using M-models. COBRAme streamlines computation and analysis of ME-models. It provides tools to simplify constructing and editing ME-models to enable ME-model reconstructions for new organisms. We used COBRAme to reconstruct a condensed E. coli ME-model called iJL1678b-ME. This reformulated model gives functionally identical solutions to previous E. coli ME-models while using 1/6 the number of free variables and solving in less than 10 minutes, a marked improvement over the 6 hour solve time of previous ME-model formulations. Errors in previous ME-models were also corrected leading to 52 additional genes that must be expressed in iJL1678b-ME to grow aerobically in glucose minimal in silico media. This manuscript outlines the architecture of COBRAme and demonstrates how ME-models can be created, modified, and shared most efficiently using the new software framework.
Extracted statement — deposits: COBRAme
Research field: Bioinformatics
Title: COBRAme: A computational framework for genome-scale models of metabolism and gene expression
Abstract: Genome-scale models of metabolism and macromolecular expression (ME-models) explicitly compute the optimal proteome composition of a growing cell. ME-models expand upon the well-established genome-scale models of metabolism (M-models), and they enable a new fundamental understanding of cellular growth. ME-models have increased predictive capabilities and accuracy due to their inclusion of the biosynthetic costs for the machinery of life, but they come with a significant increase in model size and complexity. This challenge results in models which are both difficult to compute and challenging to understand conceptually. As a result, ME-models exist for only two organisms (Escherichia coli and Thermotoga maritima) and are still used by relatively few researchers. To address these challenges, we have developed a new software framework called COBRAme for building and simulating ME-models. It is coded in Python and built on COBRApy, a popular platform for using M-models. COBRAme streamlines computation and analysis of ME-models. It provides tools to simplify constructing and editing ME-models to enable ME-model reconstructions for new organisms. We used COBRAme to reconstruct a condensed E. coli ME-model called iJL1678b-ME. This reformulated model gives functionally identical solutions to previous E. coli ME-models while using 1/6 the number of free variables and solving in less than 10 minutes, a marked improvement over the 6 hour solve time of previous ME-model formulations. Errors in previous ME-models were also corrected leading to 52 additional genes that must be expressed in iJL1678b-ME to grow aerobically in glucose minimal in silico media. This manuscript outlines the architecture of COBRAme and demonstrates how ME-models can be created, modified, and shared most efficiently using the new software framework.
Extracted statement — uses: COBRAme
Research field: Bioinformatics
Title: COBRAme: A computational framework for genome-scale models of metabolism and gene expression
Abstract: Genome-scale models of metabolism and macromolecular expression (ME-models) explicitly compute the optimal proteome composition of a growing cell. ME-models expand upon the well-established genome-scale models of metabolism (M-models), and they enable a new fundamental understanding of cellular growth. ME-models have increased predictive capabilities and accuracy due to their inclusion of the biosynthetic costs for the machinery of life, but they come with a significant increase in model size and complexity. This challenge results in models which are both difficult to compute and challenging to understand conceptually. As a result, ME-models exist for only two organisms (Escherichia coli and Thermotoga maritima) and are still used by relatively few researchers. To address these challenges, we have developed a new software framework called COBRAme for building and simulating ME-models. It is coded in Python and built on COBRApy, a popular platform for using M-models. COBRAme streamlines computation and analysis of ME-models. It provides tools to simplify constructing and editing ME-models to enable ME-model reconstructions for new organisms. We used COBRAme to reconstruct a condensed E. coli ME-model called iJL1678b-ME. This reformulated model gives functionally identical solutions to previous E. coli ME-models while using 1/6 the number of free variables and solving in less than 10 minutes, a marked improvement over the 6 hour solve time of previous ME-model formulations. Errors in previous ME-models were also corrected leading to 52 additional genes that must be expressed in iJL1678b-ME to grow aerobically in glucose minimal in silico media. This manuscript outlines the architecture of COBRAme and demonstrates how ME-models can be created, modified, and shared most efficiently using the new software framework.
Extracted statement — uses: COBRApy
Research field: Bioinformatics
Title: Clinical data Neuroimage data
Abstract: Effective discrimination of attention deficit hyperactivity disorder (ADHD) using imaging and functional biomarkers would have fundamental influence on public health. In usual, the discrimination is based on the standards of American Psychiatric Association. In this paper, we modified one of the deep learning method on structure and parameters according to the properties of ADHD data, to discriminate ADHD on the unique public dataset of ADHD-200. We predicted the subjects as control, combined, inattentive or hyperactive through their frequency features. The results achieved improvement greatly compared to the performance released by the competition. Besides, the imbalance in datasets of deep learning model influenced the results of classification. As far as we know, it is the first time that the deep learning method has been used for the discrimination of ADHD with fMRI data.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: Diagnosis of attention deficit hyperactivity disorder using deep belief network based on greedy approach
Abstract: Attention deficit hyperactivity disorder creates conditions for the child as s/he cannot sit calm and still, control his/her behavior and focus his/her attention on a particular issue. Five out of every hundred children are affected by the disease. Boys are three times more than girls at risk for this complication. The disorder often begins before age seven, and parents may not realize their children problem until they get older. Children with hyperactivity and attention deficit are at high risk of conduct disorder, antisocial personality, and drug abuse. Most children suffering from the disease will develop a feeling of depression, anxiety and lack of self-confidence. Given the importance of diagnosis the disease, Deep Belief Networks (DBNs) were used as a deep learning model to predict the disease. In this system, in addition to FMRI images features, sophisticated features such as age and IQ as well as functional characteristics, etc. were used. The proposed method was evaluated by two standard data sets of ADHD-200 Global Competitions, including NeuroImage and NYU data sets, and compared with state-of-the-art algorithms. The results showed the superiority of the proposed method rather than other systems. The prediction accuracy has improved respectively as +12.04 and +27.81 over NeuroImage and NYU datasets compared to the best proposed method in the ADHD-200 Global competition.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: Deep learning based automatic diagnoses of attention deficit hyperactive disorder
Abstract: In this paper, we aim to develop a deep learning based automatic Attention Deficit Hyperactive Disorder (ADHD) diagnosis algorithm using resting state functional magnetic resonance imaging (rs-fMRI) scans. However, relative to millions of parameters in deep neural networks (DNN), the number of fMRI samples is still limited to learn discriminative features from the raw data. In light of this, we first encode our prior knowledge on 3D features voxel-wisely, including Regional Homogeneity (ReHo), fractional Amplitude of Low Frequency Fluctuations (fALFF) and Voxel-Mirrored Homotopic Connectivity (VMHC), and take these 3D images as the input to the DNN. Inspired by the way that radiologists examine brain images, we further investigate a novel 3D convolutional neural network (CNN) architecture to learn 3D local patterns which may boost the diagnosis accuracy. Investigation on the hold-out testing data of the ADHD-200 Global competition demonstrates that the proposed 3D CNN approach yields superior performances when compared to the reported classifiers in the literature, even with less training samples.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: Application of Autoencoder in Depression Diagnosis
Abstract: Major depressive disorder (MDD) is a mental disorder characterized by at least two weeks of low mood which is present across most situations. Diagnosis of MDD using rest-state functional magnetic resonance imaging (fMRI) data faces many challenges due to the high dimensionality, small samples, noisy and individual variability. No method can automatically extract discriminative features from the origin time series in fMRI images for MDD diagnosis. In this study, we proposed a new method for feature extraction and a workflow which can make an automatic feature extraction and classification without a prior knowledge. An autoencoder was used to learn pre-training parameters of a dimensionality reduction process using 3-D convolution network. Through comparison with the other three feature extraction methods, our method achieved the best classification performance. This method can be used not only in MDD diagnosis, but also other similar disorders.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: 3D CNN Based Automatic Diagnosis of Attention Deficit Hyperactivity Disorder Using Functional and Structural MRI
Abstract: Attention deficit hyperactivity disorder (ADHD) is one of the most common mental-health disorders. As a neurodevelopment disorder, neuroimaging technologies, such as magnetic resonance imaging (MRI), coupled with machine learning algorithms, are being increasingly explored as biomarkers in ADHD. Among various machine learning methods, deep learning has demonstrated excellent performance on many imaging tasks. With the availability of publically-available, large neuroimaging data sets for training purposes, deep learning-based automatic diagnosis of psychiatric disorders can become feasible. In this paper, we develop a deep learning-based ADHD classification method via 3-D convolutional neural networks (CNNs) applied to MRI scans. Since deep neural networks may utilize millions of parameters, even the large number of MRI samples in pooled data sets is still relatively limited if one is to learn discriminative features from the raw data. Instead, here we propose to first extract meaningful 3-D low-level features from functional MRI (fMRI) and structural MRI (sMRI) data. Furthermore, inspired by radiologists’ typical approach for examining brain images, we design a 3-D CNN model to investigate the local spatial patterns of MRI features. Finally, we discover that brain functional and structural information are complementary, and design a multi-modality CNN architecture to combine fMRI and sMRI features. Evaluations on the hold-out testing data of the ADHD-200 global competition shows that the proposed multi-modality 3-D CNN approach achieves the state-of-the-art accuracy of 69.15% and outperforms reported classifiers in the literature, even with fewer training samples. We suggest that multi-modality classification will be a promising direction to find potential neuroimaging biomarkers of neurodevelopment disorders.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: A general prediction model for the detection of ADHD and Autism using structural and functional MRI
Abstract: This work presents a novel method for learning a model that can diagnose Attention Deficit Hyperactivity Disorder (ADHD), as well as Autism, using structural texture and functional connectivity features obtained from 3-dimensional structural magnetic resonance imaging (MRI) and 4-dimensional resting-state functional magnetic resonance imaging (fMRI) scans of subjects. We explore a series of three learners: (1) The LeFMS learner first extracts features from the structural MRI images using the texture-based filters produced by a sparse autoencoder. These filters are then convolved with the original MRI image using an unsupervised convolutional network. The resulting features are used as input to a linear support vector machine (SVM) classifier. (2) The LeFMF learner produces a diagnostic model by first computing spatial non-stationary independent components of the fMRI scans, which it uses to decompose each subject’s fMRI scan into the time courses of these common spatial components. These features can then be used with a learner by themselves or in combination with other features to produce the model. Regardless of which approach is used, the final set of features are input to a linear support vector machine (SVM) classifier. (3) Finally, the overall LeFMSF learner uses the combined features obtained from the two feature extraction processes in (1) and (2) above as input to an SVM classifier, achieving an accuracy of 0.673 on the ADHD-200 holdout data and 0.643 on the ABIDE holdout data. Both of these results, obtained with the same LeFMSF framework, are the best known, over all hold-out accuracies on these datasets when only using imaging data—exceeding previously-published results by 0.012 for ADHD and 0.042 for Autism. Our results show that combining multi-modal features can yield good classification accuracy for diagnosis of ADHD and Autism, which is an important step towards computer-aided diagnosis of these psychiatric diseases and perhaps others as well.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: Deep Neural Generative Model of Functional MRI Images for Psychiatric Disorder Diagnosis
Abstract: Accurate diagnosis of psychiatric disorders plays a critical role in improving the quality of life for patients and potentially supports the development of new treatments. Many studies have been conducted on machine learning techniques that seek brain imaging data for specific biomarkers of disorders. These studies have encountered the following dilemma: A direct classification overfits to a small number of high-dimensional samples but unsupervised feature-extraction has the risk of extracting a signal of no interest. In addition, such studies often provided only diagnoses for patients without presenting the reasons for these diagnoses. This study proposed a deep neural generative model of resting-state functional magnetic resonance imaging (fMRI) data. The proposed model is conditioned by the assumption of the subject's state and estimates the posterior probability of the subject's state given the imaging data, using Bayes’ rule. This study applied the proposed model to diagnose schizophrenia and bipolar disorders. Diagnostic accuracy was improved by a large margin over competitive approaches, namely classifications of functional connectivity, discriminative/generative models of regionwise signals, and those with unsupervised feature-extractors. The proposed model visualizes brain regions largely related to the disorders, thus motivating further biological investigation.
Extracted statement — Data: fMRI
Research field: Bioinformatics
Title: Acute Lymphoblastic Leukemia Detection from Microscopic Images Using Weighted Ensemble of Convolutional Neural Networks
Abstract: Although automated Acute Lymphoblastic Leukemia (ALL) detection is essential, it is challenging due to the morphological correlation between malignant and normal cells. The traditional ALL classification strategy is arduous, time-consuming, often suffers inter-observer variations, and necessitates experienced pathologists. This article has automated the ALL detection task, employing deep Convolutional Neural Networks (CNNs). We explore the weighted ensemble of deep CNNs to recommend a better ALL cell classifier. The weights are estimated from ensemble candidates' corresponding metrics, such as accuracy, F1-score, AUC, and kappa values. Various data augmentations and pre-processing are incorporated for achieving a better generalization of the network. We train and evaluate the proposed model utilizing the publicly available C-NMC-2019 ALL dataset. Our proposed weighted ensemble model has outputted a weighted F1-score of 88.6%, a balanced accuracy of 86.2%, and an AUC of 0.941 in the preliminary test set. The qualitative results displaying the gradient class activation maps confirm that the introduced model has a concentrated learned region. In contrast, the ensemble candidate models, such as Xception, VGG-16, DenseNet-121, MobileNet, and InceptionResNet-V2, separately produce coarse and scatter learned areas for most example cases. Since the proposed ensemble yields a better result for the aimed task, it can experiment in other domains of medical diagnostic applications.
Extracted statement — Used models: Xception