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VUSkb, one place to triage VUS with ACMG evidence, literature, and ClinVar alerts: feedback welcome!
Hi everyone, I’m part of the Vgenomics team that built VUSkb (vuskb.com). We created it to reduce the time spent jumping across browsers/spreadsheets... -
get rsID or positions from variant name/gene info
Hi,
I have a list of variant and gene info as follows:
MCOLN1 c.406-2A>G
G6PC c.247C>T
PCDH15 c.733C>T... -
extract clinical significant of a vcf variants from clinvar
how can I extract the clinical significant of variants of my vcf file from clinvar? Should I parse the clinvar xml file and match the variants of vcf...
