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

Autor: Huilin Xie, Xin Shi, Ruilin Zhang, Tieliu Shi, Qihua Fu, Kai Bai, Kun Sun, Yanan Lu, Sun Chen, Yu Yu, Li Zhang

Publikováno v: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 381-392 (2020)

Graphical abstract
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 ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4944a71ab015df137b1cb69ce165da3
https://doi.org/10.1016/j.csbj.2020.01.011

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

Autor: Shi X; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China., Zhang L; Key Laboratory of Advanced Theory and Application in Statistics and Data Science, East China Normal University, Ministry of Education, Shanghai, China., Bai K; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China., Xie H; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China., Shi T; The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China., Zhang R; School of Life Sciences, Fudan University, Shanghai 200438, China., Fu Q; Medical Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China., Chen S; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China., Lu Y; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China., Yu Y; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.; Institute for Developmental and Regenerative Cardiovascular Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China., Sun K; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.

Publikováno v: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2020 Feb 12; Vol. 18, pp. 381-392. Date of Electronic Publication: 2020 Feb 12 (Print Publication: 2020).