How to Check Your Own Genome Against ClinVar
A working guide to downloading ClinVar, matching it against your own VCF with bcftools, reading review-status stars correctly, and re-checking your variants as classifications change.
Tag: clinvar
6 posts
What a clinical genome is, and how it differs from the VCF on your laptop
Clinical genome means two things: a sequencing test run and interpreted under lab standards, and ClinGen, the public resource that decides which genes and variants are real. Here is how both work and how to use them on your own data.
How to Classify Your Own Variants with the ACMG/AMP Criteria
A working pipeline that classifies the variants in a personal VCF under ACMG/AMP rules, and why automated calls disagree with expert curation.
How to Search Your Own Variants: From VCF to a Shortlist You Can Read
A working pipeline for searching the 4 to 5 million variants in your genome: annotate, filter to a few dozen candidates, then check each by hand.
Proactive Genetic Testing: What to Sequence, What It Misses, and How to Read Your Own Data
A working guide to genetic testing in asymptomatic people. Covers panel versus genome, variant classes short reads miss and when a clinician is needed.
How to Look Up an rsID in Your Own DNA Data
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.