Tag: dbsnp

A practical workflow for going from an rsID to a genotype you can trust: resolving coordinates, querying your VCF, falling back to the reads when the VCF is silent, and annotating the result correctly.

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.