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rockt / SETH

SNP Extraction Tool for Human Variations
rockt.github.com/SETH
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Improve entity normalization using more HGVS mentions #22

Open Erechtheus opened 7 years ago

Erechtheus commented 7 years ago

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