AIMC Topic: Exome Sequencing

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A copula based topology preserving graph convolution network for clustering of single-cell RNA-seq data.

PLoS computational biology Mar 10, 2022
Annotation of cells in single-cell clustering requires a homogeneous grouping of cell populations. There are various issues in single cell sequencing that effect homogeneous grouping (clustering) of cells, such as small amount of starting RNA, limite...
RNA-Seq Cluster Analysis Exome Sequencing Artificial Intelligence Single-Cell Analysis
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Deep learning using bulk RNA-seq data expands cell landscape identification in tumor microenvironment.

Oncoimmunology Feb 25, 2022
The tumor microenvironment (TME) profoundly influences tumor progression and affects immunotherapy responses and resistance. Understanding its heterogeneity is the key for developing immunotherapy. However, the available methods can only partially po...
Exome Sequencing RNA-Seq Immunotherapy Tumor Microenvironment Deep Learning Humans
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Universal prediction of cell-cycle position using transfer learning.

Genome biology Jan 31, 2022
BACKGROUND: The cell cycle is a highly conserved, continuous process which controls faithful replication and division of cells. Single-cell technologies have enabled increasingly precise measurements of the cell cycle both as a biological process of ...
Machine Learning Single-Cell Analysis Cell Cycle Exome Sequencing Sequence Analysis, RNA Principal Component Analysis
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PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.

American journal of human genetics Jan 20, 2022
In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical ES analysis still involves the interpretation of hundreds of variants, which greatly hinders the rapi...
Humans Genetic Diseases, Inborn Exome Microcephaly Hearing Loss, Sensorineural Intellectual Disability Nystagmus, Congenital Computational Biology Phenotype Scoliosis Genetic Testing Machine Learning Databases, Genetic Cohort Studies Exome Sequencing Software Genotype
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DNN-Boost: Somatic mutation identification of tumor-only whole-exome sequencing data using deep neural network and XGBoost.

Journal of bioinformatics and computational biology Dec 13, 2021
Detection of somatic mutation in whole-exome sequencing data can help elucidate the mechanism of tumor progression. Most computational approaches require exome sequencing for both tumor and normal samples. However, it is more common to sequence exome...
Exome Sequencing Exome Neoplasms Mutation High-Throughput Nucleotide Sequencing Humans Neural Networks, Computer
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Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory.

Genetics in medicine : official journal of the American College of Medical Genetics Nov 30, 2021
PURPOSE: Artificial intelligence (AI) and variant prioritization tools for genomic variant analysis are being rapidly developed for use in clinical diagnostic testing. However, their clinical utility and reliability are currently limited. Therefore, ...
Humans Reproducibility of Results Genetic Testing Artificial Intelligence Exome Sequencing Exome
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Sparsely Connected Autoencoders: A Multi-Purpose Tool for Single Cell omics Analysis.

International journal of molecular sciences Nov 25, 2021
BACKGROUND: Biological processes are based on complex networks of cells and molecules. Single cell multi-omics is a new tool aiming to provide new incites in the complex network of events controlling the functionality of the cell.
Lung Neoplasms Humans Computational Biology Single-Cell Analysis Neural Networks, Computer Exome Sequencing Cluster Analysis Machine Learning Adenocarcinoma of Lung
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Deep learning for cancer type classification and driver gene identification.

BMC bioinformatics Oct 25, 2021
BACKGROUND: Genetic information is becoming more readily available and is increasingly being used to predict patient cancer types as well as their subtypes. Most classification methods thus far utilize somatic mutations as independent features for cl...
Oncogenes Deep Learning Sequence Analysis, DNA Humans Exome Sequencing Neoplasms
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Machine-learning algorithms predict breast cancer patient survival from UK Biobank whole-exome sequencing data.

Biomarkers in medicine Oct 15, 2021
We tested whether machine-learning algorithm could find biomarkers predicting overall survival in breast cancer patients using blood-based whole-exome sequencing data. Whole-exome sequencing data derived from 1181 female breast cancer patients with...
Disease-Free Survival United Kingdom Exome Sequencing Humans Breast Neoplasms Machine Learning Female Biological Specimen Banks Survival Rate
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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine Oct 14, 2021
BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds p...
Rare Diseases Genotype Databases, Genetic Phenotype Exome Sequencing Male Retrospective Studies Humans Genomics Female Artificial Intelligence
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