rockt/SETH

Improve entity normalization using more HGVS mentions

Erechtheus opened this issue · 0 comments

Erechtheus commented

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