换一批Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.
第一作者：
Xin,Shi
第一单位：
Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
作者：
关键词
ACMG, American College of Medical GeneticsCHD, congenital heart defectCTD, Conotruncal defectCongenital heart defectExAC, Exome Aggregation ConsortiumFDR, False discovery ratesGEO, Gene Expression OmnibusGSEA, gene set enrichment analysisGene mutationsHPAECs, Human Pulmonary Artery Endothelial CellsLOF, loss-of-functionMAF, minor allele frequencyPA, Pulmonary atresiaPA/IVS, Pulmonary atresia with intact ventricular septumPA/VSD, Pulmonary atresia with ventricular septal defectPPI, protein–protein interactionsPulmonary atresiaRT-qPCR, Reverse Transcription Quantitative PCRRV, right ventricleRare variantsSNP, single nucleotide polymorphismSTRING, Search Tool for the Retrieval of Interacting GenesTOF, tetralogy of FallotWES, whole exome sequencingWhole-exome sequencinggnomAD, Genome Aggregation Database
DOI
10.1016/j.csbj.2020.01.011
PMID
32128068
发布时间
2020-09-28
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