Data-driven analysis of carrier frequencies of
autosomal recessive and X-linked diseases in the
Asian population: abridged secondary publication
S Gu1, FM Lo2, KWS Tsui1, N Mullapudi3
1 School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
2 Clinical Genetic Service, Department of Health, Hong Kong SAR, China
3 Bionano Genomics, California, United States
- A robust pipeline was established to estimate and rank carrier frequencies of all known recessive genes based on genome-wide sequencing data in healthy individuals, with a focus on Asian populations.
- Comprehensive criteria were applied to identify multiple deleterious variants including known pathogenic variants, presumed loss-of-function variants, predicted deleterious missense variants, and potentially harmful in-frame insertion and deletion mutations.
- A high degree of correlation among different Asian population cohorts confirmed the validity of the variant selection criteria and overall analysis pipeline.