{"id":"https://openalex.org/W4288068401","doi":"https://doi.org/10.1093/bioinformatics/btac512","title":"ColocQuiaL: a QTL-GWAS colocalization pipeline","display_name":"ColocQuiaL: a QTL-GWAS colocalization pipeline","publication_year":2022,"publication_date":"2022-07-27","ids":{"openalex":"https://openalex.org/W4288068401","doi":"https://doi.org/10.1093/bioinformatics/btac512","pmid":"https://pubmed.ncbi.nlm.nih.gov/35894642","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9477517"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btac512","doi":"https://doi.org/10.1093/bioinformatics/btac512","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btac512","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/38/18/4409/49885711/btac512.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["abdc-a","anvur-class-a","anvur-scientific","ccf-a","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"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"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/38/18/4409/49885711/btac512.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Brian Y Chen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian Y Chen","raw_affiliation_strings":["School of Arts and Sciences, University of Pennsylvania , Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Arts and Sciences, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015564408","display_name":"William P. Bone","orcid":"https://orcid.org/0000-0002-9617-4624","observed_orcids":["https://orcid.org/0000-0002-9617-4624"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William P Bone","raw_affiliation_strings":["Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA"],"raw_orcid":"https://orcid.org/0000-0002-9617-4624","affiliations":[{"raw_affiliation_string":"Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081338991","display_name":"Kim Lorenz","orcid":"https://orcid.org/0000-0001-8674-2942","observed_orcids":["https://orcid.org/0000-0001-8674-2942"]},"institutions":[{"id":"https://openalex.org/I4210133394","display_name":"Philadelphia VA Medical Center","ror":"https://ror.org/03j05zz84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210133394","https://openalex.org/I4210147340"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kim Lorenz","raw_affiliation_strings":["Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA 19104, USA","Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104, USA","Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I4210133394"]},{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079135645","display_name":"Michael G. Levin","orcid":"https://orcid.org/0000-0002-9937-9932","observed_orcids":["https://orcid.org/0000-0002-9937-9932"]},"institutions":[{"id":"https://openalex.org/I4210133394","display_name":"Philadelphia VA Medical Center","ror":"https://ror.org/03j05zz84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210133394","https://openalex.org/I4210147340"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Levin","raw_affiliation_strings":["Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA 19104, USA","Department of Surgery, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine , Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I4210133394"]},{"raw_affiliation_string":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081769614","display_name":"Marylyn DeRiggi Ritchie","orcid":"https://orcid.org/0000-0002-1208-1720","observed_orcids":["https://orcid.org/0000-0002-1208-1720"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marylyn D Ritchie","raw_affiliation_strings":["Center for Precision Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104, USA","Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Precision Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033617328","display_name":"Benjamin F. Voight","orcid":"https://orcid.org/0000-0002-6205-9994","observed_orcids":["https://orcid.org/0000-0002-6205-9994"]},"institutions":[{"id":"https://openalex.org/I4210133394","display_name":"Philadelphia VA Medical Center","ror":"https://ror.org/03j05zz84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210133394","https://openalex.org/I4210147340"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Benjamin F Voight","raw_affiliation_strings":["Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA 19104, USA","Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104, USA","Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I4210133394"]},{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5033617328"],"corresponding_institution_ids":["https://openalex.org/I4210133394","https://openalex.org/I79576946"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":2.4153,"has_fulltext":true,"cited_by_count":23,"citation_normalized_percentile":{"value":0.89585408,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"38","issue":"18","first_page":"4409","last_page":"4411"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9682999849319458,"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":0.9682999849319458,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.016300000250339508,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.004100000020116568,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/colocalization-analysis","display_name":"colocalization analysis","score":0.8330000042915344},{"id":"https://openalex.org/keywords/expression-quantitative-trait-loci","display_name":"expression quantitative trait loci","score":0.9150000214576721},{"id":"https://openalex.org/keywords/splicing-quantitative-trait-loci","display_name":"splicing quantitative trait loci","score":0.9990000128746033},{"id":"https://openalex.org/keywords/causal-gene-identification","display_name":"causal gene identification","score":0.7919999957084656},{"id":"https://openalex.org/keywords/type-2-diabetes","display_name":"type 2 diabetes","score":0.9210000038146973},{"id":"https://openalex.org/keywords/gtex","display_name":"GTEx","score":0.6800000071525574},{"id":"https://openalex.org/keywords/r-pipeline","display_name":"R pipeline","score":0.3779999911785126}],"concepts":[{"id":"https://openalex.org/C168393362","wikidata":"https://www.wikidata.org/wiki/Q5421706","display_name":"Expression quantitative trait loci","level":5,"score":0.9370842576026917},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.8664017915725708},{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.7592070698738098},{"id":"https://openalex.org/C40209533","wikidata":"https://www.wikidata.org/wiki/Q5147828","display_name":"Colocalization","level":2,"score":0.7562698125839233},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6022413969039917},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.5109454989433289},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4811871647834778},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.46306127309799194},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4590443968772888},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.4267244338989258},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3470403552055359},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.24338608980178833},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2101324498653412},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2087019681930542},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","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":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","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}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btac512","doi":"https://doi.org/10.1093/bioinformatics/btac512","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btac512","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/38/18/4409/49885711/btac512.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["abdc-a","anvur-class-a","anvur-scientific","ccf-a","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"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":"doi:10.1101/2021.11.05.21265991","doi":"https://doi.org/10.1101/2021.11.05.21265991","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.11.05.21265991","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2021/11/09/2021.11.05.21265991.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:9477517","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9477517","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"Text"},{"id":"pmid:35894642","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35894642","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,"listed_in":[],"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":"Journal Article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btac512","doi":"https://doi.org/10.1093/bioinformatics/btac512","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btac512","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/38/18/4409/49885711/btac512.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["abdc-a","anvur-class-a","anvur-scientific","ccf-a","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"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":[{"score":0.4043000042438507,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G5109864057","display_name":"Algorithms to identify non-coding mutational burden and disease-relevant pathways","funder_award_id":"R56DK101478","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G5597901137","display_name":"Algorithms to identify non-coding mutational burden and disease-relevant pathways","funder_award_id":"R01DK101478","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G6755797404","display_name":"Leveraging genome-wide pleiotropy to improve cardiometabolic and neurological genetic association methods","funder_award_id":"20PRE35120109","funder_id":"https://openalex.org/F4320306230","funder_display_name":"American Heart Association"},{"id":"https://openalex.org/G7851939598","display_name":"Functional Interrogation of T2D-associated genes in human stem cell-derived models and mice","funder_award_id":"UM1DK126194","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G9000180154","display_name":null,"funder_award_id":"DK101478","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000909771","display_name":"Training Program in Cardiovascular Biology and Medicine","funder_award_id":"T32HL007843","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4288068401.pdf","grobid_xml":"https://content.openalex.org/works/W4288068401.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W2073836327","https://openalex.org/W2102619694","https://openalex.org/W2142386149","https://openalex.org/W2161633633","https://openalex.org/W2163013660","https://openalex.org/W2342127666","https://openalex.org/W2901303766","https://openalex.org/W2990990574","https://openalex.org/W3035152464","https://openalex.org/W3126704164","https://openalex.org/W3163978851","https://openalex.org/W3202212354","https://openalex.org/W4220930978","https://openalex.org/W4221115564","https://openalex.org/W4280552086"],"related_works":["https://openalex.org/W3094583419","https://openalex.org/W4281552264","https://openalex.org/W3183591947","https://openalex.org/W3081022054","https://openalex.org/W7125981355","https://openalex.org/W4388539975","https://openalex.org/W4416664707","https://openalex.org/W2980501751","https://openalex.org/W2073836327","https://openalex.org/W4311474966"],"abstract_inverted_index":{"SUMMARY:":[0],"Identifying":[1],"genomic":[2],"features":[3],"responsible":[4],"for":[5,74],"genome-wide":[6],"association":[7],"study":[8],"(GWAS)":[9],"signals":[10,27,43],"has":[11],"proven":[12],"to":[13,22,40,44,54,72,86],"be":[14],"a":[15,52,90],"difficult":[16],"challenge;":[17],"many":[18],"researchers":[19],"have":[20],"turned":[21],"colocalization":[23,57,88],"analysis":[24],"of":[25,77],"GWAS":[26,42,95],"with":[28],"expression":[29],"quantitative":[30,36],"trait":[31,37],"loci":[32,38],"(eQTL)":[33],"and":[34,64,68,96,103,115],"splicing":[35],"(sQTL)":[39],"connect":[41],"candidate":[45],"causal":[46],"genes.":[47],"The":[48],"ColocQuiaL":[49,85,109],"pipeline":[50],"provides":[51],"framework":[53],"perform":[55,87],"these":[56],"analyses":[58],"at":[59],"scale":[60],"across":[61],"the":[62,78],"genome":[63],"returns":[65],"summary":[66],"files":[67],"locus":[69],"visualization":[70],"plots":[71],"allow":[73],"detailed":[75],"review":[76],"results.":[79],"As":[80],"an":[81],"example,":[82],"we":[83],"used":[84],"between":[89],"recent":[91],"type":[92],"2":[93],"diabetes":[94],"Genotype-Tissue":[97],"Expression":[98],"(GTEx)":[99],"v8":[100],"single-tissue":[101],"eQTL":[102],"sQTL":[104],"data.":[105],"AVAILABILITY":[106],"AND":[107],"IMPLEMENTATION:":[108],"is":[110,116],"primarily":[111],"written":[112],"in":[113],"R":[114],"freely":[117],"available":[118],"on":[119],"GitHub:":[120],"https://github.com/bvoightlab/ColocQuiaL.":[121]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-07-28T00:00:00"}
