Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity - PubMed
7 hours ago
- #British South Asians
- #exome sequencing
- #autozygosity
- Exome sequencing of 44,028 British South Asians (Pakistani and Bangladeshi) enriched for autozygosity, linked to electronic health records.
- Identified over 100 novel gene-phenotype associations via exome-wide analyses and meta-analyses with UK Biobank.
- Found 2,991 genes with rare biallelic predicted loss-of-function genotypes, 546 being previously unreported.
- Drugs targeting genes with knockouts in adults are 2.2 times more likely to progress beyond phase 1 clinical trials.
- Phenotypic profiles from knockout genotypes can enhance drug target assessment and interpret variants in recessive disease genes.