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

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

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

Afiliação

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.
Sun K; Institute for Developmental and Regenerative Cardiovascular Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.

Comput Struct Biotechnol J ; 18: 381-392, 2020.

Article em En | MEDLINE | ID: mdl-32128068

Palavras-chave

ACMG, American College of Medical Genetics; CHD, congenital heart defect; CTD, Conotruncal defect; Congenital heart defect; ExAC, Exome Aggregation Consortium; FDR, False discovery rates; GEO, Gene Expression Omnibus; GSEA, gene set enrichment analysis; Gene mutations; HPAECs, Human Pulmonary Artery Endothelial Cells; LOF, loss-of-function; MAF, minor allele frequency; PA, Pulmonary atresia; PA/IVS, Pulmonary atresia with intact ventricular septum; PA/VSD, Pulmonary atresia with ventricular septal defect; PPI, proteinprotein interactions; Pulmonary atresia; RT-qPCR, Reverse Transcription Quantitative PCR; RV, right ventricle; Rare variants; SNP, single nucleotide polymorphism; STRING, Search Tool for the Retrieval of Interacting Genes; TOF, tetralogy of Fallot; WES, whole exome sequencing; Whole-exome sequencing; gnomAD, Genome Aggregation Database

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article