Tag: clinvar

A working guide to genetic testing in asymptomatic people: panel vs genome, the variant classes short-read pipelines silently miss, the annotation stack we'd run on our own VCF, and where a clinician is non-optional.

A practical guide to resolving rsIDs against your own genotypes: normalizing a VCF, querying dbSNP and Ensembl, annotating with consequence, frequency, and ClinVar, and reading the result without over-interpreting it.