| Autor: |
Martin M. C. Chui, Christopher C. Y. Mak, Mullin H. C. Yu, Sandra Y. Y. Wong, Kin‐Shing Lun, Tak‐Cheung Yung, Anna K. Y. Kwong, Pak‐Cheong Chow, Brian H. Y. Chung |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 4 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2047-9980 |
| DOI: |
10.1161/JAHA.122.028226 |
| Popis: |
Background In nonsyndromic conotruncal cardiac defects, the use of next‐generation sequencing for clinical diagnosis is increasingly adopted, but gene‐disease associations in research are only partially translated to diagnostic panels, suggesting a need for evidence‐based consensus. Methods and Results In an exome data set of 245 patients with conotruncal cardiac defects, we performed burden analysis on a high‐confidence congenital heart disease gene list (n=132) with rare ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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