Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease

• Published in: PLoS genetics Vol. 18; no. 6; p. e1010252
• Main Authors: Xie, Yuhan, Jiang, Wei, Dong, Weilai, Li, Hongyu, Jin, Sheng Chih, Brueckner, Martina, Zhao, Hongyu
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.06.2022; Public Library of Science (PLoS)
• Subjects: Age; Animals; Biology and Life Sciences; Cardiovascular disease; Case-Control Studies; Cohort Studies; Computer and Information Sciences; Congenital diseases; Coronary artery disease; Data analysis; Exome; Exome Sequencing; Genes; Genetic screening; Heart; Heart Defects, Congenital - genetics; Heart diseases; Humans; Medicine and Health Sciences; Mice; Parameter estimation; Power; Protein interaction; Proteins; Research and Analysis Methods; Statistics
• ISSN: 1553-7404; 1553-7390; 1553-7404
• DOI: 10.1371/journal.pgen.1010252

De novo variants (DNVs) with deleterious effects have proved informative in identifying risk genes for early-onset diseases such as congenital heart disease (CHD). A number of statistical methods have been proposed for family-based studies or case/control studies to identify risk genes by screening...