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  4. Ethnically unique disease burden and limitations of current expanded carrier screening panels
 
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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)
CHIH-LING CHEN  
NI-CHUNG LEE  
YIN-HSIU CHIEN  
WUH-LIANG ​​HWU  
Hung, Miao-Zi
Lin, Yi-Lin
SHIN-YU LIN  
CHIEN-NAN LEE  
DOI
10.1002/ijgo.15072
URI
https://scholars.lib.ntu.edu.tw/handle/123456789/635917
URL
https://api.elsevier.com/content/abstract/scopus_id/85170368289
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

臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

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開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

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