{"id":"https://openalex.org/W7130312968","doi":"https://doi.org/10.1093/bioinformatics/btag079","title":"<tt>ReverseGWAS</tt> identifies combined phenotypes associated with a genotype in GWA studies","display_name":"<tt>ReverseGWAS</tt> identifies combined phenotypes associated with a genotype in GWA studies","publication_year":2026,"publication_date":"2026-02-13","ids":{"openalex":"https://openalex.org/W7130312968","doi":"https://doi.org/10.1093/bioinformatics/btag079","pmid":"https://pubmed.ncbi.nlm.nih.gov/41702378"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btag079","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btag079","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/bioinformatics/btag079","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065939739","display_name":"Leonid Chindelevitch","orcid":"https://orcid.org/0000-0002-6619-6013"},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Leonid Chindelevitch","raw_affiliation_strings":["MRC Centre for Global Infectious Disease Analysis, School of Public Health, Imperial College , London W2 1NY,"],"affiliations":[{"raw_affiliation_string":"MRC Centre for Global Infectious Disease Analysis, School of Public Health, Imperial College , London W2 1NY,","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113251298","display_name":"\u00c5sa K. Hedman","orcid":null},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"\u00c5sa K Hedman","raw_affiliation_strings":["Inflammation and Immunology, Pfizer Research and Development , Cambridge, MA 02139,"],"affiliations":[{"raw_affiliation_string":"Inflammation and Immunology, Pfizer Research and Development , Cambridge, MA 02139,","institution_ids":["https://openalex.org/I180857899"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061488787","display_name":"Dmitri Bichko","orcid":null},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dmitri Bichko","raw_affiliation_strings":["Inflammation and Immunology, Pfizer Research and Development , Cambridge, MA 02139,"],"affiliations":[{"raw_affiliation_string":"Inflammation and Immunology, Pfizer Research and Development , Cambridge, MA 02139,","institution_ids":["https://openalex.org/I180857899"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5126357504","display_name":"Daniel Ziemek","orcid":null},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel Ziemek","raw_affiliation_strings":["Inflammation and Immunology, Pfizer Research and Development , Cambridge, MA 02139,"],"affiliations":[{"raw_affiliation_string":"Inflammation and Immunology, Pfizer Research and Development , Cambridge, MA 02139,","institution_ids":["https://openalex.org/I180857899"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5065939739"],"corresponding_institution_ids":["https://openalex.org/I47508984"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.55516056,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"42","issue":"3","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9800999760627747,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9800999760627747,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11171","display_name":"Diabetes and associated disorders","score":0.006099999882280827,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.6832000017166138},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5993000268936157},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.41370001435279846},{"id":"https://openalex.org/keywords/genotype-phenotype-distinction","display_name":"Genotype-phenotype distinction","score":0.3783999979496002},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.3434999883174896}],"concepts":[{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6832000017166138},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.636900007724762},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5993000268936157},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5745999813079834},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4645000100135803},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.41370001435279846},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.3783999979496002},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.3434999883174896},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.28299999237060547},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2563000023365021},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2533999979496002}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btag079","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btag079","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:41702378","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41702378","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:13003317","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13003317/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btag079","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btag079","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W1607828984","https://openalex.org/W1652175895","https://openalex.org/W1981714996","https://openalex.org/W1982636457","https://openalex.org/W2056165766","https://openalex.org/W2082536587","https://openalex.org/W2082704080","https://openalex.org/W2095821741","https://openalex.org/W2100442196","https://openalex.org/W2106779017","https://openalex.org/W2118434625","https://openalex.org/W2134783591","https://openalex.org/W2148885985","https://openalex.org/W2505968561","https://openalex.org/W2589289356","https://openalex.org/W2614948710","https://openalex.org/W2889717408","https://openalex.org/W2889800760","https://openalex.org/W2897912114","https://openalex.org/W2966176854","https://openalex.org/W3028329270","https://openalex.org/W3037262948","https://openalex.org/W3092143458","https://openalex.org/W3095266411","https://openalex.org/W3162800482","https://openalex.org/W3163935900","https://openalex.org/W4210660885","https://openalex.org/W4317390883","https://openalex.org/W4360900206","https://openalex.org/W4366169658","https://openalex.org/W4388893323","https://openalex.org/W4396815400"],"related_works":[],"abstract_inverted_index":{"The":[0],"source":[1],"code":[2],"of":[3],"ReverseGWAS":[4],"is":[5],"freely":[6],"available":[7],"to":[8],"non-commercial":[9],"users":[10],"as":[11],"an":[12],"installable":[13],"R":[14],"package":[15],"at":[16],"https://github.com/Leonardini/rgwas.":[17]},"counts_by_year":[],"updated_date":"2026-03-24T08:02:53.985720","created_date":"2026-02-19T00:00:00"}
