{"id":"https://openalex.org/W2926620862","doi":"https://doi.org/10.1093/bioinformatics/btz161","title":"Integration of methylation QTL and enhancer\u2013target gene maps with schizophrenia GWAS summary results identifies novel genes","display_name":"Integration of methylation QTL and enhancer\u2013target gene maps with schizophrenia GWAS summary results identifies novel genes","publication_year":2019,"publication_date":"2019-03-06","ids":{"openalex":"https://openalex.org/W2926620862","doi":"https://doi.org/10.1093/bioinformatics/btz161","mag":"2926620862","pmid":"https://pubmed.ncbi.nlm.nih.gov/30850848"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btz161","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz161","pdf_url":null,"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,"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":null,"license_id":null,"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":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6761938","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5011295368","display_name":"Chong Wu","orcid":"https://orcid.org/0000-0002-8400-1785"},"institutions":[{"id":"https://openalex.org/I103163165","display_name":"Florida State University","ror":"https://ror.org/05g3dte14","country_code":"US","type":"education","lineage":["https://openalex.org/I103163165"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Chong Wu","raw_affiliation_strings":["Department of Statistics, Florida State University , Tallahassee, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics, Florida State University , Tallahassee, FL, USA","institution_ids":["https://openalex.org/I103163165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018997928","display_name":"Wei Pan","orcid":"https://orcid.org/0000-0002-1159-0582"},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Wei Pan","raw_affiliation_strings":["Division of Biostatistics, University of Minnesota , Minneapolis, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biostatistics, University of Minnesota , Minneapolis, MN, USA","institution_ids":["https://openalex.org/I130238516"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5011295368","https://openalex.org/A5018997928"],"corresponding_institution_ids":["https://openalex.org/I103163165","https://openalex.org/I130238516"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":2.7376,"has_fulltext":false,"cited_by_count":21,"citation_normalized_percentile":{"value":0.90195515,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":"35","issue":"19","first_page":"3576","last_page":"3583"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9890999794006348,"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":0.9890999794006348,"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":0.002300000051036477,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.002199999988079071,"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/genome-wide-association-study","display_name":"Genome-wide association study","score":0.7271944284439087},{"id":"https://openalex.org/keywords/enhancer","display_name":"Enhancer","score":0.6323207020759583},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6271153092384338},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6158112287521362},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.599843442440033},{"id":"https://openalex.org/keywords/quantitative-trait-locus","display_name":"Quantitative trait locus","score":0.5782334804534912},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5489034652709961},{"id":"https://openalex.org/keywords/methylation","display_name":"Methylation","score":0.5447741746902466},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.4728562831878662},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.18145546317100525},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.11064362525939941}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7271944284439087},{"id":"https://openalex.org/C111936080","wikidata":"https://www.wikidata.org/wiki/Q913367","display_name":"Enhancer","level":4,"score":0.6323207020759583},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6271153092384338},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6158112287521362},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.599843442440033},{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.5782334804534912},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5489034652709961},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.5447741746902466},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.4728562831878662},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.18145546317100525},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.11064362525939941},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"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":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012559","descriptor_name":"Schizophrenia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012559","descriptor_name":"Schizophrenia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012559","descriptor_name":"Schizophrenia","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":"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":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btz161","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz161","pdf_url":null,"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,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:30850848","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30850848","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:6761938","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6761938","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:6761938","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6761938","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Partnerships for the goals","id":"https://metadata.un.org/sdg/17","score":0.4000000059604645}],"awards":[{"id":"https://openalex.org/G158629936","display_name":null,"funder_award_id":"R01GM113250","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2776446655","display_name":null,"funder_award_id":"R01 HL105397","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2795842232","display_name":null,"funder_award_id":"R01HL116720","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3054124669","display_name":null,"funder_award_id":"R21 AG057038","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3560566263","display_name":null,"funder_award_id":"R01 GM113250","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G3680452566","display_name":null,"funder_award_id":"R01 GM126002","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G3902967860","display_name":null,"funder_award_id":"R01 GM126002","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3989192771","display_name":null,"funder_award_id":"R01 HL116720","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4734899348","display_name":null,"funder_award_id":"R21AG057038","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7012971482","display_name":null,"funder_award_id":"R01-HL105397","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":57,"referenced_works":["https://openalex.org/W1585687822","https://openalex.org/W1970528899","https://openalex.org/W1971095698","https://openalex.org/W1973062929","https://openalex.org/W1984827465","https://openalex.org/W1985439907","https://openalex.org/W1992902151","https://openalex.org/W2011463791","https://openalex.org/W2015845481","https://openalex.org/W2016015848","https://openalex.org/W2017316872","https://openalex.org/W2022713347","https://openalex.org/W2025943989","https://openalex.org/W2050082205","https://openalex.org/W2056198580","https://openalex.org/W2065498897","https://openalex.org/W2067666373","https://openalex.org/W2078059415","https://openalex.org/W2101357408","https://openalex.org/W2114115532","https://openalex.org/W2115807273","https://openalex.org/W2116584178","https://openalex.org/W2117792884","https://openalex.org/W2119393622","https://openalex.org/W2120462849","https://openalex.org/W2122698311","https://openalex.org/W2131034808","https://openalex.org/W2135199713","https://openalex.org/W2138848739","https://openalex.org/W2146135000","https://openalex.org/W2161527093","https://openalex.org/W2163953557","https://openalex.org/W2167638767","https://openalex.org/W2169322959","https://openalex.org/W2209106767","https://openalex.org/W2264585211","https://openalex.org/W2295108095","https://openalex.org/W2308959237","https://openalex.org/W2316537321","https://openalex.org/W2328393125","https://openalex.org/W2337876203","https://openalex.org/W2559028527","https://openalex.org/W2560222628","https://openalex.org/W2613373507","https://openalex.org/W2725988230","https://openalex.org/W2745617444","https://openalex.org/W2751279494","https://openalex.org/W2752211734","https://openalex.org/W2754593315","https://openalex.org/W2755956251","https://openalex.org/W2763836527","https://openalex.org/W2767572999","https://openalex.org/W2788609121","https://openalex.org/W2794573350","https://openalex.org/W2795209747","https://openalex.org/W2802007658","https://openalex.org/W2950691269"],"related_works":["https://openalex.org/W2113330652","https://openalex.org/W2902329290","https://openalex.org/W2052355316","https://openalex.org/W2046964473","https://openalex.org/W2107880877","https://openalex.org/W2151182744","https://openalex.org/W2024490794","https://openalex.org/W2221018455","https://openalex.org/W2054863651","https://openalex.org/W1998349112"],"abstract_inverted_index":{"MOTIVATION:":[0],"Most":[1],"trait-associated":[2],"genetic":[3],"variants":[4],"identified":[5],"in":[6,13,34],"genome-wide":[7,104],"association":[8,32,45,124],"studies":[9],"(GWASs)":[10],"are":[11,149],"located":[12],"non-coding":[14],"regions":[15],"of":[16,77],"the":[17,92,118],"genome":[18],"and":[19,42,53,73,99,120,133],"thought":[20],"to":[21,65],"act":[22],"through":[23],"their":[24],"regulatory":[25,36],"roles.":[26],"RESULTS:":[27],"To":[28],"account":[29],"for":[30,70],"enriched":[31],"signals":[33],"DNA":[35],"elements,":[37],"we":[38,89],"propose":[39],"a":[40],"novel":[41,100],"general":[43],"gene-based":[44,123],"testing":[46],"strategy":[47],"that":[48,91,108],"integrates":[49],"enhancer-target":[50,130],"gene":[51,131],"pairs":[52,132],"methylation":[54],"quantitative":[55,137],"trait":[56,138],"locus":[57],"data":[58,148],"with":[59],"GWAS":[60,86],"summary":[61,87],"results;":[62],"it":[63],"aims":[64],"both":[66],"boost":[67],"statistical":[68],"power":[69],"new":[71,79],"discoveries":[72],"enhance":[74],"mechanistic":[75],"interpretability":[76],"any":[78],"discovery.":[80],"By":[81],"reanalyzing":[82],"two":[83],"large-scale":[84],"schizophrenia":[85],"datasets,":[88],"demonstrate":[90],"proposed":[93],"method":[94],"could":[95],"identify":[96],"some":[97,121],"significant":[98,105],"genes":[101],"(containing":[102],"no":[103],"SNPs":[106],"nearby)":[107],"would":[109],"have":[110],"been":[111],"missed":[112],"by":[113],"other":[114],"competing":[115],"approaches,":[116],"including":[117],"standard":[119],"integrative":[122],"methods,":[125],"such":[126],"as":[127],"one":[128,134],"incorporating":[129],"integrating":[135],"expression":[136],"loci.":[139],"AVAILABILITY":[140],"AND":[141],"IMPLEMENTATION:":[142],"Software:":[143],"wuchong.org/egmethyl.html.":[144],"SUPPLEMENTARY":[145],"INFORMATION:":[146],"Supplementary":[147],"available":[150],"at":[151],"Bioinformatics":[152],"online.":[153]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2}],"updated_date":"2026-08-01T09:00:35.917206","created_date":"2025-10-10T00:00:00"}
