Login / Signup

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