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Published 20 hours ago • verified publisher icon rockt

Improve entity normalization using more HGVS mentions

Open Erechtheus opened this issue 7 years ago • 0 comments

Check tmVar 2.0 paper (https://www.ncbi.nlm.nih.gov/research/bionlp/Tools/tmvar/)

They incorporate beside dbSNP also ClinVar and "hearst patterns"
ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/hgvs4variation.txt.gz

Erechtheus avatar Sep 08 '17 10:09 Erechtheus