4 posts
A working stack for going from a personal WGS VCF to a reviewable variant list: Ensembl VEP for annotation, slivar for filtering, InterVar for ACMG classification, and the checks that keep the whole thing from lying to you.
A working guide to reading a genetic report and your own VCF: variant nomenclature, ACMG classification, penetrance, coverage checks, and the commands to verify a call yourself.
A working pipeline that classifies the variants in a personal VCF under ACMG/AMP rules, and why automated calls disagree with expert curation.
A technical guide to preventive genetic testing: which variants have actionable evidence, why sequencing depth and file format matter, and how to work with your own VCF without over-reading it.