|Title:||Ethnically unique disease burden and limitations of current expanded carrier screening panels||Authors:||CHIH-LING CHEN
|Keywords:||carrier identification; carrier screening; congenital disorders; exome-sequencing; expanded carrier screening; rare single gene disorders; recessive disorders; trio-exome sequencing||Issue Date:||8-Sep-2023||Source:||International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics||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.
|Appears in Collections:||醫學院附設醫院 (臺大醫院)|
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