Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing

Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing

Pulmonary atresia (PA) is a rare congenital heart defect (CHD) with complex manifestations and a high mortality rate. Since the genetic determinants in the pathogenesis of PA remain elusive, a thorough identification of the genetic factors through whole exome sequencing (WES) will provide novel insi...

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Bibliographic Details
Main Authors: Xin Shi, Li Zhang, Kai Bai, Huilin Xie, Tieliu Shi, Ruilin Zhang, Qihua Fu, Sun Chen, Yanan Lu, Yu Yu, Kun Sun
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Congenital heart defect
Pulmonary atresia
Whole-exome sequencing
Rare variants
Gene mutations
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037019302922

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