Article

PSEA: A phenotypic similarity ensemble approach for prioritizes candidate genes to aid mendelian disease diagnosis

2021-10-15

Abstract excerpt

<h4>Motivation</h4> Next-generation sequencing (NGS) is increasingly applied to the molecular diagnosis of genetic disorders. However, challenges for the interpretation of NGS data remain given the massive number of variants produced by NGS. Careful assessment is required to identify the most likely disease-causing variants that best match the patients’ clinical phenotypes, which is highly experience-dependent an...

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Literature Corpus work: 7df974af-9fe7-56e3-8031-c3ac2fb6a91c
DOI: 10.1101/2021.10.13.464308

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