Variant Interpretation and Reporting

Cross-source consensus on Variant Interpretation and Reporting from 1 sources and 5 claims.

1 sources · 5 claims

Uses

Pathogenic or likely pathogenic variants were reported only when biologically consistent with phenotype and validated using independent DNA. — Population-scale genomic medicine with the Hong Kong Genome Project
Participants received pretest genetic counseling and written informed consent under a three-tier consent and assent model. — Population-scale genomic medicine with the Hong Kong Genome Project
Diagnostic SNVs and indels were prioritized using allele frequency, inheritance, phenotype matching, and virtual disease panels. — Population-scale genomic medicine with the Hong Kong Genome Project
Only pathogenic or likely pathogenic variants will be returned as additional medically actionable findings. — Population-scale genomic medicine with the Hong Kong Genome Project
HKGI developed an opt-in return plan for additional medically actionable dominant findings in 13 genes. — Population-scale genomic medicine with the Hong Kong Genome Project