https://scholars.lib.ntu.edu.tw/handle/123456789/635917| Title: | Ethnically unique disease burden and limitations of current expanded carrier screening panels | Authors: | CHIH-LING CHEN NI-CHUNG LEE YIN-HSIU CHIEN WUH-LIANG HWU Hung, Miao-Zi Lin, Yi-Lin SHIN-YU LIN CHIEN-NAN LEE |
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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/635917 | ISSN: | 0020-7292 1879-3479 |
DOI: | 10.1002/ijgo.15072 |
| Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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