Genetic Tools · Phase 42 · Integrated variant triage

Phenotype-aware Variant Prioritizer

Connect the phenotype-first Genetic Tools workflow with variants already annotated in Batch VCF / Variant → Experiment. This phase does not re-run variant annotation and does not assign pathogenicity. It integrates phenotype-gene rank, consequence, ClinVar context, population frequency and inheritance/segregation context into a transparent research-priority index.

Disease name

Disease ID

HPO phenotype profile

Prioritized genes

One gene per line. Optional rank may be first or second column.

Pre-annotated candidate variants

Required columns: Gene and Variant/HGVS. Optional aliases are accepted for consequence, ClinVar, AF, zygosity, inheritance and source.

Ready.

Rare Disease Phenotype Gene–Disease Evidence Batch VCF Analysis SV / CNV Interpreter Variant → Experiment

Phenotype-aware Variant Prioritizer

Integrated research-priority results