{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:41:35Z","timestamp":1772138495542,"version":"3.50.1"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"W1","license":[{"start":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T00:00:00Z","timestamp":1651017600000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Health Collaboration Acceleration Fund,\u00a0Government of Quebec"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Establishing the relationship between protein-coding genes and phenotypes has the potential to inform on the molecular etiology of diseases. Here, we describe ExPheWas (exphewas.ca), a gene-based phenome-wide association study browser and platform that enables the conduct of gene-based Mendelian randomization. The ExPheWas data repository includes sex-stratified and sex-combined gene-based association results from 26\u00a0616 genes with 1746 phenotypes measured in up to 413\u00a0133 individuals from the UK Biobank. Interactive visualizations are provided through a browser to facilitate data exploration supported by false discovery rate control, and it includes tools for enrichment analysis. The interactive Mendelian randomization module in ExPheWas allows the estimation of causal effects of a genetically predicted exposure on an outcome by using genetic variation in a single gene as the instrumental variable.<\/jats:p>","DOI":"10.1093\/nar\/gkac289","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T07:18:52Z","timestamp":1649920732000},"page":"W305-W311","source":"Crossref","is-referenced-by-count":18,"title":["ExPheWas: a platform for\n                    <i>cis<\/i>\n                    -Mendelian randomization and gene-based association scans"],"prefix":"10.1093","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6927-1210","authenticated-orcid":false,"given":"Marc-Andr\u00e9","family":"Legault","sequence":"first","affiliation":[{"name":"Montreal Heart Institute , Montreal, QC H1T 1C8, Canada"},{"name":"Universit\u00e9 de Montr\u00e9al Beaulieu-Saucier Pharmacogenomics Centre , Montreal, QC\u00a0H1T 1C8, Canada"},{"name":"Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Universit\u00e9 de Montr\u00e9al , Montreal, QC\u00a0H3T 1J4, Canada"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-0958","authenticated-orcid":false,"given":"Louis-Philippe Lemieux","family":"Perreault","sequence":"additional","affiliation":[{"name":"Montreal Heart Institute , Montreal, QC H1T 1C8, Canada"},{"name":"Universit\u00e9 de Montr\u00e9al Beaulieu-Saucier Pharmacogenomics Centre , Montreal, QC\u00a0H1T 1C8, Canada"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8200-8983","authenticated-orcid":false,"given":"Jean-Claude","family":"Tardif","sequence":"additional","affiliation":[{"name":"Montreal Heart Institute , Montreal, QC H1T 1C8, Canada"},{"name":"Department of Medicine, Faculty of Medicine, Universit\u00e9 de Montr\u00e9al , Montreal, QC\u00a0H3T 1J4,\u00a0 Canada"}]},{"given":"Marie-Pierre","family":"Dub\u00e9","sequence":"additional","affiliation":[{"name":"Montreal Heart Institute , Montreal, QC H1T 1C8, Canada"},{"name":"Universit\u00e9 de Montr\u00e9al Beaulieu-Saucier Pharmacogenomics Centre , Montreal, QC\u00a0H1T 1C8, Canada"},{"name":"Department of Medicine, Faculty of Medicine, Universit\u00e9 de Montr\u00e9al , Montreal, QC\u00a0H3T 1J4,\u00a0 Canada"}]}],"member":"286","published-online":{"date-parts":[[2022,4,26]]},"reference":[{"key":"2022070500000652000_B1","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/bioinformatics\/btq126","article-title":"PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene\u2013disease associations","volume":"26","author":"Denny","year":"2010","journal-title":"Bioinformatics"},{"key":"2022070500000652000_B2","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1038\/nbt.2749","article-title":"Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data","volume":"31","author":"Denny","year":"2013","journal-title":"Nat. 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