The AVADA database includes unvalidated (see disclaimer) variant evidence data,
automatically retrieved from 61,116 full text papers deposited in PubMed until 07-2016.
Source code download
Automatically retrieved variants download
Non-US users should consider copyright laws in their home
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Variant accuracy disclaimer
AVADA is an important step forward in automated variant evidence
retrieval. Looking up AVADA evidence is very easy. But AVADA is far
from perfect: 1. It is not comprehensive. Some key papers will be
. 2. Automated mapping of author mentioned variants to the
correct genomic coordinates is hard. AVADA gets many of these
. 3. AVADA attempts to curate only papers that seem relevant
for Mendelian diseases, but makes mistakes
there too. USE AVADA AT
YOUR OWN RISK. VERIFY GENOMIC COORDINATE MAPPINGS, ASSESS VARIANT
AND GENE PATHOGENICITY FROM ALL EVDIENCE YOU COLLECT. WE TAKE NO
RESPONSIBILITY FOR MISUSE OF AVADA DATA.
Manuscript / How to cite
Johannes Birgmeier, Cole A. Deisseroth, Laura E. Hayward, Luisa M. T. Galhardo, Andrew P. Tierno, Karthik A. Jagadeesh, Peter D. Stenson, David N. Cooper, Jonathan A. Bernstein, Maximilian Haeussler, and Gill Bejerano:
AVADA: Towards Automated Pathogenic Variant Evidence Retrieval Directly from the Full Text Literature.
Genetics in Medicine, 2019. DOI: 10.1038/s41436-019-0643-6