Article

AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

2018-11-04

Abstract excerpt

<h4>Purpose</h4> The primary literature on human genetic diseases includes descriptions of pathogenic variants that are essential for clinical diagnosis. Variant databases such as ClinVar and HGMD collect pathogenic variants by manual curation. We aimed to automatically construct a freely accessible database of pathogenic variants directly from full-text articles about genetic disease. <h4>Methods</h4> AVADA (Au...

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Literature Corpus work: 201495e7-596f-5c3d-8f73-6aca2940388f
DOI: 10.1101/461269

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