{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T08:11:57Z","timestamp":1772784717333,"version":"3.50.1"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"EQUIP\u2014Funding for Medical Scientists"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>When performing genome-wide association studies conventionally the additive genetic model is used to explore whether a single nucleotide polymorphism (SNP) is associated with a quantitative trait. But for variants, which do not follow an intermediate mode of inheritance (MOI), the recessive or the dominant genetic model can have more power to detect associations and furthermore the MOI is important for downstream analyses and clinical interpretation. When multiple MOIs are modelled the question arises, which describes the true underlying MOI best.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We developed an R-package allowing for the first time to determine study specific critical values when one of the three models is more informative than the other ones for a quantitative trait locus. The package allows for user-friendly simulations to determine these critical values with predefined minor allele frequencies and study sizes. For application scenarios with extensive multiple testing we integrated an interpolation functionality to determine critical values already based on a moderate number of random draws.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>The R-package pgainsim is freely available for download on Github at https:\/\/github.com\/genepi-freiburg\/pgainsim.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btab150","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T20:12:06Z","timestamp":1614715926000},"page":"3061-3063","source":"Crossref","is-referenced-by-count":2,"title":["pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7057-7663","authenticated-orcid":false,"given":"Nora","family":"Scherer","sequence":"first","affiliation":[{"name":"Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center\u2014University of Freiburg , Freiburg 79106, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2263-447X","authenticated-orcid":false,"given":"Peggy","family":"Sekula","sequence":"additional","affiliation":[{"name":"Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center\u2014University of Freiburg , Freiburg 79106, Germany"}]},{"given":"Peter","family":"Pfaffelhuber","sequence":"additional","affiliation":[{"name":"Faculty of Mathematics and Physics, University of Freiburg , Freiburg 79104, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8460-0462","authenticated-orcid":false,"given":"Pascal","family":"Schlosser","sequence":"additional","affiliation":[{"name":"Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center\u2014University of Freiburg , Freiburg 79106, Germany"}]}],"member":"286","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"2023061310544255000_btab150-B1","doi-asserted-by":"crossref","first-page":"e1005553","DOI":"10.1371\/journal.pgen.1005553","article-title":"Metabolomic quantitative trait loci (mQTL) mapping implicates the ubiquitin proteasome system in cardiovascular disease pathogenesis","volume":"11","author":"Kraus","year":"2015","journal-title":"PLoS Genet"},{"key":"2023061310544255000_btab150-B2","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1186\/1471-2105-13-120","article-title":"On the hypothesis-free testing of metabolite ratios in genome-wide and metabolome-wide association studies","volume":"13","author":"Petersen","year":"2012","journal-title":"BMC Bioinformatics"},{"key":"2023061310544255000_btab150-B3","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/s41588-019-0567-8","article-title":"Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans","volume":"52","author":"Schlosser","year":"2020","journal-title":"Nature Genetics"},{"key":"2023061310544255000_btab150-B4","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/s41576-019-0127-1","article-title":"Benefits and limitations of genome-wide association studies","volume":"20","author":"Tam","year":"2019","journal-title":"Nat. Rev. Genet"},{"key":"2023061310544255000_btab150-B5","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1007\/s00125-016-3908-5","article-title":"Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively","volume":"59","author":"Wood","year":"2016","journal-title":"Diabetologia"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/bioinformatics\/advance-article-pdf\/doi\/10.1093\/bioinformatics\/btab150\/36643451\/btab150.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/37\/18\/3061\/50579506\/btab150.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/37\/18\/3061\/50579506\/btab150.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T10:55:32Z","timestamp":1686653732000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/37\/18\/3061\/6159607"}},"subtitle":[],"editor":[{"given":"Russell","family":"Schwartz","sequence":"additional","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2021,3,5]]},"references-count":5,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2021,9,29]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btab150","relation":{},"ISSN":["1367-4803","1367-4811"],"issn-type":[{"value":"1367-4803","type":"print"},{"value":"1367-4811","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,9,15]]},"published":{"date-parts":[[2021,3,5]]}}}