{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kerner G"],"funding":["NCATS NIH HHS","Agence Nationale de la Recherche","NIDDK NIH HHS","Office of Extramural Research, National Institutes of Health","NHGRI NIH HHS","HHS | NIH | National Human Genome Research Institute","National Human Genome Research Institute","NIH HHS"],"pagination":["19367-19375"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7430978"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["117(32)"],"pubmed_abstract":["Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome. Some monogenic disorders may therefore actually be digenic. However, only a few digenic disorders have been reported, all discovered by candidate gene approaches applied to at least one locus. We propose here a two-locus genome-wide test for detecting digenic inheritance in WES data. This approach uses the gene as the unit of analysis and tests all pairs of genes to detect pairwise gene × gene interactions underlying disease. It is a case-only method, which has several advantages over classic case-control tests, in particular by avoiding recru"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["A genome-wide case-only test for the detection of digenic inheritance in human exomes."],"pmcid":["PMC7430978"],"funding_grant_id":["ANR-14-CE14- 0007-01","ANR-16-CE12-0023-01","UL1 TR001866","UL1 TR001863","S10 OD018521","U24 HG008956","ANR-10-IAHU-01","P30 DK079310","UM1HG006504","UM1 HG006504","8UL1TR001866"],"pubmed_authors":["Bouaziz M","Cobat A","Kerner G","Timberlake AT","Casanova JL","Abel L","Bigio B","Lifton RP","Bustamante J"],"additional_accession":[]},"is_claimable":false,"name":"A genome-wide case-only test for the detection of digenic inheritance in human exomes.","description":"Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome. Some monogenic disorders may therefore actually be digenic. However, only a few digenic disorders have been reported, all discovered by candidate gene approaches applied to at least one locus. We propose here a two-locus genome-wide test for detecting digenic inheritance in WES data. This approach uses the gene as the unit of analysis and tests all pairs of genes to detect pairwise gene × gene interactions underlying disease. It is a case-only method, which has several advantages over classic case-control tests, in particular by avoiding recru","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Aug","modification":"2026-05-03T00:17:20.895Z","creation":"2021-02-21T03:41:20Z"},"accession":"S-EPMC7430978","cross_references":{"pubmed":["32719112"],"doi":["10.1073/pnas.1920650117"]}}