Article

Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data

2018-08-21

Abstract excerpt

<h4>Motivation</h4> Recent studies showed that a phenotype-driven analysis of whole exome sequencing (WES) could provide more accurate and clinically relevant genetic variants. <h4>Results</h4> We develop a computational tool called Divine that integrates patients’ phenotype(s) and WES data with 30 prior biological knowledge (e.g., human phenotype ontology, gene ontology, pathway database, protein-protein intera...

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Literature Corpus work: 8ae5644b-b4bd-5203-bbcf-34ba9e080873
DOI: 10.1101/396655

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