Recessive Carrier Screening
Cross-source consensus on Recessive Carrier Screening from 1 sources and 6 claims.
1 sources · 6 claims
Benefits
Comparisons
Evidence quality
Other
Highlighted claims
- Nearly half of analyzed Hong Kong Chinese participants carried at least one pathogenic or likely pathogenic variant in ACMG carrier screening genes. — Population-scale genomic medicine with the Hong Kong Genome Project
- The ACMG carrier gene virtual at-risk couple frequency was 6.60% and was dominated by GJB2. — Population-scale genomic medicine with the Hong Kong Genome Project
- Actual couple validation closely matched the virtual at-risk couple model. — Population-scale genomic medicine with the Hong Kong Genome Project
- Chinese-specific re-tiering reduced the screening panel to 61 genes while increasing carrier detection and modeled reproductive risk coverage. — Population-scale genomic medicine with the Hong Kong Genome Project
- At-risk couple frequency was modeled using all possible pairings among unrelated Chinese participants. — Population-scale genomic medicine with the Hong Kong Genome Project
- The Chinese-specific carrier panel doubled reproductive risk coverage while using fewer genes. — Population-scale genomic medicine with the Hong Kong Genome Project