Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

ABSTRACT: Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with next-generation sequencing data, 1116 with exome sequencing and 427 with genome sequencing data. Our data revealed that 1 in 2 people (47.8% of the population) was a carrier for one or more recessive conditions, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. In alignment with current American College of Obstetricians and Gynecologists (ACOG)

SUBMITTER: Chau JFT 

PROVIDER: S-EPMC8938515 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature