Article

Digenic variant interpretation with hypothesis-driven explainable AI

2023-10-03

Abstract excerpt

<h4>Motivation</h4> The digenic inheritance hypothesis holds the potential to enhance diagnostic yield in rare diseases. Computational approaches capable of accurately interpreting and prioritizing digenic combinations based on the proband’s phenotypic profiles and familial information can provide valuable assistance to clinicians during the diagnostic process. <h4>Results</h4> We have developed diVas, a hypothe...

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Literature Corpus work: 1594f973-3a0b-503c-b2f0-5e375562c32f
DOI: 10.1101/2023.10.02.560464

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