Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

ABSTRACT: Rare genetic diseases are responsible for a small but significant proportion of childhood morbidity and mortality. The majority of these diseases have no treatment and they create a huge burden on the families and the whole society. A well-tested strategy to prevent these diseases from happening is carrier screening, which can reduce the incidents of autosomal recessive (AR) and X-linked (XL) conditions. Using a carrier screening panel based on next-generation sequencing, 1265 patients including 388 pairs of couples were tested for 486 genes, covering 623 conditions. A total of 1397 variants were found in 66.32% of the individuals, representing a mutation burden of 1.10 variants per person. The highest mutation burdens were found in the subgroups participants with histories of abnormal pre

SUBMITTER: Wang H 

PROVIDER: S-EPMC12223086 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature