{"id":"https://openalex.org/W3094696885","doi":"https://doi.org/10.1371/journal.pcbi.1008315","title":"Leveraging functional annotation to identify genes associated with complex diseases","display_name":"Leveraging functional annotation to identify genes associated with complex diseases","publication_year":2020,"publication_date":"2020-11-02","ids":{"openalex":"https://openalex.org/W3094696885","doi":"https://doi.org/10.1371/journal.pcbi.1008315","mag":"3094696885","pmid":"https://pubmed.ncbi.nlm.nih.gov/33137096"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1008315","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1008315","pdf_url":null,"source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1371/journal.pcbi.1008315","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100431822","display_name":"Wei Liu","orcid":"https://orcid.org/0000-0002-5294-7963"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wei Liu","raw_affiliation_strings":["Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100361469","display_name":"Mo Li","orcid":"https://orcid.org/0000-0002-9915-1348"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mo Li","raw_affiliation_strings":["Department of Biostatistics, Yale School of Public Health, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, Yale School of Public Health, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100751239","display_name":"Wenfeng Zhang","orcid":"https://orcid.org/0000-0002-0347-707X"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wenfeng Zhang","raw_affiliation_strings":["Department of Biostatistics, Yale School of Public Health, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, Yale School of Public Health, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051970375","display_name":"Geyu Zhou","orcid":null},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Geyu Zhou","raw_affiliation_strings":["Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101796545","display_name":"Xing Wu","orcid":"https://orcid.org/0000-0002-8579-7025"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xing Wu","raw_affiliation_strings":["Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100388791","display_name":"Jiawei Wang","orcid":"https://orcid.org/0000-0003-2627-4897"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jiawei Wang","raw_affiliation_strings":["Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083375749","display_name":"Qiongshi Lu","orcid":"https://orcid.org/0000-0002-4514-0969"},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]},{"id":"https://openalex.org/I74022624","display_name":"Oklahoma State University Center for Health Sciences","ror":"https://ror.org/02mfxdp77","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I74022624"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qiongshi Lu","raw_affiliation_strings":["Center for Demography of Health and Aging, University of Wisconsin-Madison, WI, United States of America","Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, WI, United States of America","Department of Statistics, University of Wisconsin-Madison, WI, United States of America"],"affiliations":[{"raw_affiliation_string":"Center for Demography of Health and Aging, University of Wisconsin-Madison, WI, United States of America","institution_ids":["https://openalex.org/I74022624","https://openalex.org/I135310074"]},{"raw_affiliation_string":"Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, WI, United States of America","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"Department of Statistics, University of Wisconsin-Madison, WI, United States of America","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074828414","display_name":"Hongyu Zhao","orcid":"https://orcid.org/0000-0003-1195-9607"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hongyu Zhao","raw_affiliation_strings":["Department of Biostatistics, Yale School of Public Health, New Haven, CT, United States of America","Department of Genetics, Yale School of Medicine, New Haven, CT, United States of America","Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, Yale School of Public Health, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Genetics, Yale School of Medicine, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States of America","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5074828414"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":2.8823,"has_fulltext":false,"cited_by_count":24,"citation_normalized_percentile":{"value":0.91090101,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":98},"biblio":{"volume":"16","issue":"11","first_page":"e1008315","last_page":"e1008315"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9997000098228455,"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":0.9997000098228455,"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":0.9991000294685364,"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"}},{"id":"https://openalex.org/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9984999895095825,"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/expression-quantitative-trait-loci","display_name":"Expression quantitative trait loci","score":0.7469513416290283},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.7394270300865173},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"Linkage disequilibrium","score":0.6397933959960938},{"id":"https://openalex.org/keywords/epigenetics","display_name":"Epigenetics","score":0.5853990912437439},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5818774700164795},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5653653144836426},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.5435999035835266},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.5400084257125854},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5358240604400635},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5234453082084656},{"id":"https://openalex.org/keywords/quantitative-trait-locus","display_name":"Quantitative trait locus","score":0.5141299366950989},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.4609975814819336},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.43412062525749207},{"id":"https://openalex.org/keywords/transcriptome","display_name":"Transcriptome","score":0.42160576581954956},{"id":"https://openalex.org/keywords/trait","display_name":"Trait","score":0.4199097454547882},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.3502570688724518},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.11157143115997314}],"concepts":[{"id":"https://openalex.org/C168393362","wikidata":"https://www.wikidata.org/wiki/Q5421706","display_name":"Expression quantitative trait loci","level":5,"score":0.7469513416290283},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7394270300865173},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.6397933959960938},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.5853990912437439},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5818774700164795},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5653653144836426},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5435999035835266},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5400084257125854},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5358240604400635},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5234453082084656},{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.5141299366950989},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4609975814819336},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.43412062525749207},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.42160576581954956},{"id":"https://openalex.org/C106934330","wikidata":"https://www.wikidata.org/wiki/Q1971873","display_name":"Trait","level":2,"score":0.4199097454547882},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.3502570688724518},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11157143115997314},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"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/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[{"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":"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":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","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":"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":"D040641","descriptor_name":"Quantitative Trait Loci","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":"D040641","descriptor_name":"Quantitative Trait Loci","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":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","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":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1371/journal.pcbi.1008315","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1008315","pdf_url":null,"source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:33137096","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33137096","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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:doaj.org/article:9a313733ffc14240b1cfea607bec41c2","is_oa":true,"landing_page_url":"https://doaj.org/article/9a313733ffc14240b1cfea607bec41c2","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 16, Iss 11, p e1008315 (2020)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7660930","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7660930","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":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1008315","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1008315","pdf_url":null,"source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1475187493","display_name":null,"funder_award_id":"AG021342","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2141112963","display_name":null,"funder_award_id":"DMS 1902903","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G2375931374","display_name":null,"funder_award_id":"GM134005","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G28875480","display_name":null,"funder_award_id":"P30 AG021342","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3564054520","display_name":null,"funder_award_id":"R01 GM122078","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5602485414","display_name":null,"funder_award_id":"1902903","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G6121916639","display_name":null,"funder_award_id":"R01 GM134005","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":77,"referenced_works":["https://openalex.org/W1483883706","https://openalex.org/W1533942137","https://openalex.org/W1606018094","https://openalex.org/W1844405070","https://openalex.org/W1857762931","https://openalex.org/W1964426200","https://openalex.org/W1965425724","https://openalex.org/W1968821035","https://openalex.org/W1979521131","https://openalex.org/W1988427943","https://openalex.org/W2003502313","https://openalex.org/W2006700629","https://openalex.org/W2018363492","https://openalex.org/W2019232525","https://openalex.org/W2053408851","https://openalex.org/W2058253080","https://openalex.org/W2070050178","https://openalex.org/W2078059415","https://openalex.org/W2081832076","https://openalex.org/W2083279359","https://openalex.org/W2089865437","https://openalex.org/W2095884976","https://openalex.org/W2097360283","https://openalex.org/W2115779804","https://openalex.org/W2122742681","https://openalex.org/W2122825543","https://openalex.org/W2123564569","https://openalex.org/W2125700595","https://openalex.org/W2133009026","https://openalex.org/W2133445018","https://openalex.org/W2133452708","https://openalex.org/W2142205294","https://openalex.org/W2143027433","https://openalex.org/W2144961623","https://openalex.org/W2159417227","https://openalex.org/W2163953557","https://openalex.org/W2164116506","https://openalex.org/W2171816696","https://openalex.org/W2174992367","https://openalex.org/W2177081428","https://openalex.org/W2194804006","https://openalex.org/W2195783463","https://openalex.org/W2209106767","https://openalex.org/W2259938310","https://openalex.org/W2264585211","https://openalex.org/W2342127666","https://openalex.org/W2519244818","https://openalex.org/W2555614465","https://openalex.org/W2575618123","https://openalex.org/W2581246226","https://openalex.org/W2590697544","https://openalex.org/W2596367266","https://openalex.org/W2602141149","https://openalex.org/W2605072706","https://openalex.org/W2606675097","https://openalex.org/W2754593315","https://openalex.org/W2757354636","https://openalex.org/W2759086237","https://openalex.org/W2804152737","https://openalex.org/W2806559603","https://openalex.org/W2808448636","https://openalex.org/W2904830263","https://openalex.org/W2949265370","https://openalex.org/W2950235747","https://openalex.org/W2950649723","https://openalex.org/W2951079876","https://openalex.org/W2951544440","https://openalex.org/W2952273935","https://openalex.org/W2952835495","https://openalex.org/W2953285308","https://openalex.org/W2962931338","https://openalex.org/W2990542782","https://openalex.org/W2999574254","https://openalex.org/W3102243692","https://openalex.org/W3125452207","https://openalex.org/W4294541781","https://openalex.org/W6757764005"],"related_works":["https://openalex.org/W104925310","https://openalex.org/W2464196154","https://openalex.org/W2150283886","https://openalex.org/W1995613491","https://openalex.org/W2115836816","https://openalex.org/W2951751247","https://openalex.org/W2143143063","https://openalex.org/W2112543488","https://openalex.org/W4384126845","https://openalex.org/W2071852132"],"abstract_inverted_index":{"To":[0],"increase":[1,148],"statistical":[2],"power":[3],"to":[4,85,113,151,160,180,187,195,221,228],"identify":[5,50,114,130,188,213],"genes":[6,116,191,205,214,235,253],"associated":[7,206],"with":[8,59,110,123,207,215],"complex":[9,182],"traits,":[10,183,209],"a":[11,26,100,143],"number":[12],"of":[13,65,73,92,107,149,153,260],"transcriptome-wide":[14],"association":[15],"study":[16],"(TWAS)":[17],"methods":[18,35,67],"have":[19],"been":[20],"proposed":[21],"using":[22],"gene":[23,93],"expression":[24,38,43,61,94],"as":[25],"mediating":[27],"trait":[28,45],"linking":[29],"genetic":[30,52],"variations":[31],"and":[32,48,89,137,165],"diseases.":[33],"These":[34],"first":[36],"predict":[37],"levels":[39],"based":[40,169],"on":[41,54,70,170],"inferred":[42,159],"quantitative":[44],"loci":[46,243],"(eQTLs)":[47],"then":[49],"expression-mediated":[51],"effects":[53],"diseases":[55],"by":[56,156,163],"associating":[57],"phenotypes":[58],"predicted":[60],"levels.":[62],"The":[63],"success":[64],"these":[66,208],"critically":[68],"depends":[69],"the":[71,81,90,203,261],"identification":[72,106],"eQTLs,":[74],"which":[75],"may":[76],"not":[77,244],"be":[78,161],"functional":[79,162],"in":[80,246,254],"corresponding":[82],"tissue,":[83],"due":[84],"linkage":[86],"disequilibrium":[87],"(LD)":[88],"correlation":[91],"between":[95],"tissues.":[96],"Here,":[97],"we":[98,184,232],"introduce":[99],"new":[101],"method":[102],"called":[103],"T-GEN":[104,127,157,179,210,225],"(Transcriptome-mediated":[105],"disease-associated":[108,115],"Genes":[109],"Epigenetic":[111],"aNnotation)":[112],"leveraging":[117],"epigenetic":[118,125],"information.":[119],"Through":[120],"prioritizing":[121],"SNPs":[122,131],"tissue-specific":[124],"annotation,":[126],"can":[128,211],"better":[129,212],"that":[132,142],"are":[133,158,167],"both":[134],"statistically":[135],"predictive":[136],"biologically":[138],"functional.":[139],"We":[140,249],"found":[141],"significantly":[144],"higher":[145],"percentage":[146],"(an":[147],"18.7%":[150],"47.2%)":[152],"eQTLs":[154],"identified":[155,204,233],"ChromHMM":[164],"more":[166,189],"deleterious":[168],"their":[171],"Combined":[172],"Annotation":[173],"Dependent":[174],"Depletion":[175],"(CADD)":[176],"scores.":[177],"Applying":[178],"207":[181],"were":[185],"able":[186],"trait-associated":[190],"(ranging":[192],"from":[193,199],"7.7%":[194],"102%)":[196],"than":[197],"those":[198],"existing":[200],"methods.":[201,223],"Among":[202],"high":[216],"(>0.99)":[217],"pLI":[218],"scores":[219],"compared":[220],"other":[222],"When":[224],"was":[226],"applied":[227],"late-onset":[229],"Alzheimer's":[230],"disease,":[231],"96":[234],"located":[236],"at":[237],"15":[238],"loci,":[239],"including":[240,258],"two":[241,262],"novel":[242,263],"implicated":[245],"previous":[247],"GWAS.":[248],"further":[250],"replicated":[251],"50":[252],"an":[255],"independent":[256],"GWAS,":[257],"one":[259],"loci.":[264]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":7}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}