Ethnically unique disease burden and limitations of current expanded carrier screening panels
Journal
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
Journal Volume
164
Journal Issue
3
Pages
918
Date Issued
2024
Author(s)
Hung, Miao-Zi
Lin, Yi-Lin
Abstract
The purpose of the study is to identify the recessive diseases currently affecting real-world pediatric patients in Taiwan, and whether current extended carrier screening panels have the coverage and detective power to identify the pathogenic variants in the carrier parents.
Subjects
carrier identification; carrier screening; congenital disorders; exome-sequencing; expanded carrier screening; rare single gene disorders; recessive disorders; trio-exome sequencing
Type
journal article