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Improve entity normalization using more HGVS mentions #22

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Erechtheus opened this issue Sep 8, 2017 · 0 comments
Open

Improve entity normalization using more HGVS mentions #22

Erechtheus opened this issue Sep 8, 2017 · 0 comments

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@Erechtheus
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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

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