Rare Disease Genomics & Variant Prioritization — Hands-on

Diagnose rare diseases with a rigorous, phenotype-driven workflow. This module takes you from deep clinical phenotyping and pedigree modeling through trio-based WES/WGS analysis, multi-class variant discovery (SNV/INDEL/CNV/SV) , prioritization with in-silico scores and population constraint, and final ACMG/AMP interpretation with audit-ready reports and reanalysis strategies.