Diagnostic Genome Sequencing
Cross-source consensus on Diagnostic Genome Sequencing from 1 sources and 6 claims.
1 sources · 6 claims
Benefits
Comparisons
Evidence quality
Highlighted claims
- The diagnostic pipeline produced positive genetic diagnoses in 24.8% of probands. — Population-scale genomic medicine with the Hong Kong Genome Project
- Most diagnosed probands had potential changes in clinical management after genome sequencing. — Population-scale genomic medicine with the Hong Kong Genome Project
- A substantial share of pathogenic or likely pathogenic SNVs and indels were novel. — Population-scale genomic medicine with the Hong Kong Genome Project
- Family-based sequencing had a higher diagnostic yield than singleton sequencing. — Population-scale genomic medicine with the Hong Kong Genome Project
- Genome sequencing shortened a long diagnostic odyssey among positively diagnosed probands. — Population-scale genomic medicine with the Hong Kong Genome Project
- Richer phenotyping was associated with improved diagnostic yield. — Population-scale genomic medicine with the Hong Kong Genome Project