Article

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis

2018-07-04

Abstract excerpt

<h4>Purpose</h4> Severe genetic diseases affect 7 million births per year, worldwide. Diagnosing these diseases is necessary for optimal care, but it can involve the manual evaluation of hundreds of genetic variants per case, with many variants taking an hour to evaluate. Automatic gene-ranking approaches shorten this process by reporting which of the genes containing variants are most likely to be causing the pa...

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Literature Corpus work: c950e38e-3f67-53d3-8f0f-cdc125a83870
DOI: 10.1101/362111

Open publication

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