How to Interpret Your Own Genetic Test Results
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.
Tag: acmg
3 posts
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.
What Preventive Genetic Testing Can and Cannot Tell You
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.