{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T14:02:54Z","timestamp":1782828174635,"version":"3.54.5"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"21","license":[{"start":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T00:00:00Z","timestamp":1622764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"publisher","award":["U24 224370"],"award-info":[{"award-number":["U24 224370"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Illuminating the Druggable Genome Knowledge Management Center"},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF14CC0001"],"award-info":[{"award-number":["NNF14CC0001"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Genome-wide association studies can reveal important genotype\u2013phenotype associations; however, data quality and interpretability issues must be addressed. For drug discovery scientists seeking to prioritize targets based on the available evidence, these issues go beyond the single study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Here, we describe rational ranking, filtering and interpretation of inferred gene\u2013trait associations and data aggregation across studies by leveraging existing curation and harmonization efforts. Each gene\u2013trait association is evaluated for confidence, with scores derived solely from aggregated statistics, linking a protein-coding gene and phenotype. We propose a method for assessing confidence in gene\u2013trait associations from evidence aggregated across studies, including a bibliometric assessment of scientific consensus based on the iCite relative citation ratio, and meanRank scores, to aggregate multivariate evidence.<\/jats:p>\n                    <jats:p>This method, intended for drug target hypothesis generation, scoring and ranking, has been implemented as an analytical pipeline, available as open source, with public datasets of results, and a web application designed for usability by drug discovery scientists.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Web application, datasets and source code via https:\/\/unmtid-shinyapps.net\/tiga\/.<\/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\/btab427","type":"journal-article","created":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T23:33:54Z","timestamp":1622763234000},"page":"3865-3873","source":"Crossref","is-referenced-by-count":18,"title":["TIGA: target illumination GWAS analytics"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1476-6192","authenticated-orcid":false,"given":"Jeremy J","family":"Yang","sequence":"first","affiliation":[{"name":"Division of Translational Informatics, Department of Internal Medicine, University of New Mexico Health Sciences Center , Albuquerque, NM 87131, USA"},{"name":"Integrative Data Science Laboratory, School of Informatics, Computing and Engineering, Indiana University , Bloomington, IN 47408, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhouha","family":"Grissa","sequence":"additional","affiliation":[{"name":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen , Copenhagen 2200, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe G","family":"Lambert","sequence":"additional","affiliation":[{"name":"Division of Translational Informatics, Department of Internal Medicine, University of New Mexico Health Sciences Center , Albuquerque, NM 87131, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian G","family":"Bologa","sequence":"additional","affiliation":[{"name":"Division of Translational Informatics, Department of Internal Medicine, University of New Mexico Health Sciences Center , Albuquerque, NM 87131, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen L","family":"Mathias","sequence":"additional","affiliation":[{"name":"Division of Translational Informatics, Department of Internal Medicine, University of New Mexico Health Sciences Center , Albuquerque, NM 87131, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Waller","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of New Mexico Health Sciences Center , Albuquerque, NM 87131, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Wild","sequence":"additional","affiliation":[{"name":"Integrative Data Science Laboratory, School of Informatics, Computing and Engineering, Indiana University , Bloomington, IN 47408, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7885-715X","authenticated-orcid":false,"given":"Lars Juhl","family":"Jensen","sequence":"additional","affiliation":[{"name":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen , Copenhagen 2200, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6195-6976","authenticated-orcid":false,"given":"Tudor I","family":"Oprea","sequence":"additional","affiliation":[{"name":"Division of Translational Informatics, Department of Internal Medicine, University of New Mexico Health Sciences Center , Albuquerque, NM 87131, USA"},{"name":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen , Copenhagen 2200, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,6,4]]},"reference":[{"key":"2024041009311771300_btab427-B1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: toolfor the unification of biology","volume":"25","author":"Ashburner","year":"2000","journal-title":"Nat. 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