AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.

Johannes BirgmeierCole A DeisserothLaura E HaywardLuisa M T GalhardoAndrew P TiernoKarthik A JagadeeshPeter D StensonDavid N CooperJonathan A BernsteinMaximilian HaeusslerGill Bejerano

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

AVADA advances automated retrieval of pathogenic monogenic variant evidence from full-text literature. Far from perfect, but much faster than PubMed/Google Scholar search, careful curation of AVADA-retrieved evidence can aid both database curation and patient diagnosis.

Keyphrases

systematic review
machine learning
deep learning
high throughput
smoking cessation
case report
emergency department
adverse drug
single cell