{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Nieuwoudt C"],"pubmed_abstract":["<h4>Background</h4>Studies that ascertain families containing multiple relatives affected by disease can be useful for identification of causal, rare variants from next-generation sequencing data.<h4>Results</h4>We present the R package SimRVPedigree, which allows researchers to simulate pedigrees ascertained on the basis of multiple, affected relatives. By incorporating the ascertainment process in the simulation, SimRVPedigree allows researchers to better understand the within-family patterns of relationship amongst affected individuals and ages of disease onset.<h4>Conclusions</h4>Through simulation, we show that affected members of a family segregating a rare disease variant tend to be more numerous and cluster in relationships more closely than those for sporadic disease. We also show"],"journal":["Source code for biology and medicine"],"pagination":["2"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6190569"],"repository":["biostudies-literature"],"pubmed_title":["Simulating pedigrees ascertained for multiple disease-affected relatives."],"pmcid":["PMC6190569"],"pubmed_authors":["Nieuwoudt C","Jones SJ","Brooks-Wilson A","Graham J"],"additional_accession":[]},"is_claimable":false,"name":"Simulating pedigrees ascertained for multiple disease-affected relatives.","description":"<h4>Background</h4>Studies that ascertain families containing multiple relatives affected by disease can be useful for identification of causal, rare variants from next-generation sequencing data.<h4>Results</h4>We present the R package SimRVPedigree, which allows researchers to simulate pedigrees ascertained on the basis of multiple, affected relatives. By incorporating the ascertainment process in the simulation, SimRVPedigree allows researchers to better understand the within-family patterns of relationship amongst affected individuals and ages of disease onset.<h4>Conclusions</h4>Through simulation, we show that affected members of a family segregating a rare disease variant tend to be more numerous and cluster in relationships more closely than those for sporadic disease. We also show","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2025-04-18T23:55:41.297Z","creation":"2019-03-27T00:03:59Z"},"accession":"S-EPMC6190569","cross_references":{"pubmed":["30356812"],"doi":["10.1186/s13029-018-0069-6"]}}