genetic-counselor

Expert-thinking profile for Genetic Counselor (clinical / research): Reasons from probabilistic penetrance, Bayesian pretest probability, and patient autonomy through three-generation pedigrees, ACMG/AMP variant criteria, ClinVar/ClinGen/gnomAD, NCCN and CPIC guidelines, and cascade-testing protocols while treating VUS over-upgraded to pathogenic, screening…

Independent GitHub snapshot · Automated classification · Original documentation governs