AIMC Topic: Exome Sequencing

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Style transfer with variational autoencoders is a promising approach to RNA-Seq data harmonization and analysis.

Bioinformatics (Oxford, England) Dec 22, 2020
MOTIVATION: The transcriptomic data are being frequently used in the research of biomarker genes of different diseases and biological states. The most common tasks there are the data harmonization and treatment outcome prediction. Both of them can be...
Neural Networks, Computer Software RNA-Seq Semantics Exome Sequencing
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PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.

Bioinformatics (Oxford, England) Oct 1, 2019
MOTIVATION: Whole-exome sequencing (WES) is now being used in clinical practice for the diagnosis of the causal genes of Mendelian diseases. In order to make the diagnosis, however, the clinical phenotypes [e.g. Human Phenotype Ontology (HPO) terms] ...
Humans Software Phenotype Computational Biology Natural Language Processing Exome Sequencing
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A machine learning approach for somatic mutation discovery.

Science translational medicine Sep 5, 2018
Variability in the accuracy of somatic mutation detection may affect the discovery of alterations and the therapeutic management of cancer patients. To address this issue, we developed a somatic mutation discovery approach based on machine learning t...
Humans Machine Learning Software Neoplasms Immunotherapy Mutation High-Throughput Nucleotide Sequencing Exome Sequencing Exome
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