domains / families / science / variant-prioritization

variant-prioritization

separate

Prioritizes rare-disease variants from trio/quad WES/WGS with de novo (DeNovoGear, Triodenovo), compound-heterozygous phasing (WhatsHap), mosaic VAF tiering, phenotype-driven ranking (Exomiser, Phen2Gene, AMELIE), ClinGen gene-disease validity gating, and ACMG SF v3.2 secondary findings reporting. Use when running diagnostic exome / genome pipelines, identifying candidate Mendelian disease genes, screening for incidental findings, or auditing VUS reclassification cycles. The ACMG/AMP classification framework (PVS1 decision tree, Pejaver PP3/BP4 calibration, Tavtigian point system) is in clinical-databases/acmg-classification.

When to use

• running diagnostic exome / genome pipelines
• identifying candidate Mendelian disease genes
• screening for incidental findings
• auditing VUS reclassification cycles
• de novo variant calling
• compound-heterozygous phasing
• mosaic VAF tiering
• phenotype-driven ranking

When not to use

• ACMG/AMP classification framework
• PVS1 decision tree
• Pejaver PP3/BP4 calibration
• Tavtigian point system

Skill page

Source