{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:45:58Z","timestamp":1740185158520,"version":"3.37.3"},"reference-count":64,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T00:00:00Z","timestamp":1626220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["12071243"],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["2017SHZDZX01"]},{"DOI":"10.13039\/100000001","name":"National Science Foundation","doi-asserted-by":"publisher","award":["DMS-1903139","DMS-2015411"],"id":[{"id":"10.13039\/100000001","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,11]]},"abstract":"Abstract<\/jats:title>Motivation<\/jats:title>Identification and interpretation of non-coding variations that affect disease risk remain a paramount challenge in genome-wide association studies (GWAS) of complex diseases. Experimental efforts have provided comprehensive annotations of functional elements in the human genome. On the other hand, advances in computational biology, especially machine learning approaches, have facilitated accurate predictions of cell-type-specific functional annotations. Integrating functional annotations with GWAS signals has advanced the understanding of disease mechanisms. In previous studies, functional annotations were treated as static of a genomic region, ignoring potential functional differences imposed by different genotypes across individuals.<\/jats:p><\/jats:sec>Results<\/jats:title>We develop a computational approach, Openness Weighted Association Studies (OWAS), to leverage and aggregate predictions of chromosome accessibility in personal genomes for prioritizing GWAS signals. The approach relies on an analytical expression we derived for identifying disease associated genomic segments whose effects in the etiology of complex diseases are evaluated. In extensive simulations and real data analysis, OWAS identifies genes\/segments that explain more heritability than existing methods, and has a better replication rate in independent cohorts than GWAS. Moreover, the identified genes\/segments show tissue-specific patterns and are enriched in disease relevant pathways. We use rheumatic arthritis and asthma as examples to demonstrate how OWAS can be exploited to provide novel insights on complex diseases.<\/jats:p><\/jats:sec>Availability and implementation<\/jats:title>The R package OWAS that implements our method is available at https:\/\/github.com\/shuangsong0110\/OWAS.<\/jats:p><\/jats:sec>Supplementary information<\/jats:title>Supplementary data are available at Bioinformatics online.<\/jats:p><\/jats:sec>","DOI":"10.1093\/bioinformatics\/btab514","type":"journal-article","created":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T19:46:54Z","timestamp":1625687214000},"page":"4737-4743","source":"Crossref","is-referenced-by-count":4,"title":["Openness weighted association studies: leveraging personal genome information to prioritize non-coding variants"],"prefix":"10.1093","volume":"37","author":[{"given":"Shuang","family":"Song","sequence":"first","affiliation":[{"name":"Center for Statistical Science, Department of Industrial Engineering, Tsinghua University , 100084 Beijing, China"}]},{"given":"Nayang","family":"Shan","sequence":"additional","affiliation":[{"name":"Center for Statistical Science, Department of Industrial Engineering, Tsinghua University , 100084 Beijing, China"}]},{"given":"Geng","family":"Wang","sequence":"additional","affiliation":[{"name":"University of Queensland Diamantina Institute, University of Queensland , 4102 Brisbane, Australia"}]},{"given":"Xiting","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Section of Pulmonary, Critical Care, and Sleep Medicine, Yale School of Medicine , New Haven, CT 06519, USA"},{"name":"Department of Biostatistics, Yale School of Public Health , New Haven, CT 06510, USA"}]},{"given":"Jun S","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Statistics, Harvard University , Cambridge, MA 02138, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4283-8501","authenticated-orcid":false,"given":"Lin","family":"Hou","sequence":"additional","affiliation":[{"name":"Center for Statistical Science, Department of Industrial Engineering, Tsinghua University , 100084 Beijing, China"},{"name":"MOE Key Laboratory of Bioinformatics, School of Life Sciences, Tsinghua University , 100084 Beijing, China"}]}],"member":"286","published-online":{"date-parts":[[2021,7,14]]},"reference":[{"key":"2023051607125467600_btab514-B1","doi-asserted-by":"crossref","first-page":"e1007616","DOI":"10.1371\/journal.pcbi.1007616","article-title":"DeepWAS: multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning","volume":"16","author":"Arloth","year":"2020","journal-title":"PLoS Comput. Biol"},{"key":"2023051607125467600_btab514-B2","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1016\/j.cell.2016.10.042","article-title":"The allelic landscape of human blood cell trait variation and links to common complex disease","volume":"167","author":"Astle","year":"2016","journal-title":"Cell"},{"key":"2023051607125467600_btab514-B3","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J. R. Stat. Soc. Ser. B (Methodological)"},{"key":"2023051607125467600_btab514-B4","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/s41586-020-03145-z","article-title":"Regulatory genomic circuitry of human disease loci by integrative epigenomics","volume":"590","author":"Boix","year":"2021","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13059-016-1112-z","article-title":"DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles","volume":"17","author":"Chen","year":"2016","journal-title":"Genome Biol"},{"key":"2023051607125467600_btab514-B6","doi-asserted-by":"crossref","first-page":"W483","DOI":"10.1093\/nar\/gkab337","article-title":"OpenAnnotate: a web server to annotate the chromatin accessibility of genomic regions","volume":"49","author":"Chen","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"2023051607125467600_btab514-B7","doi-asserted-by":"crossref","first-page":"e1004787","DOI":"10.1371\/journal.pgen.1004787","article-title":"GPA: a statistical approach to prioritizing GWAS results by integrating pleiotropy and annotation","volume":"10","author":"Chung","year":"2014","journal-title":"PLoS Genet"},{"key":"2023051607125467600_btab514-B8","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1056\/NEJM195310012491402","article-title":"Length of life and cause of death in rheumatoid arthritis","volume":"249","author":"Cobb","year":"1953","journal-title":"N. Engl. J. Med"},{"key":"2023051607125467600_btab514-B9","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Consortium","year":"2012","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B10","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/nature05911","article-title":"Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls","volume":"447","author":"Consortium","year":"2007","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B11","doi-asserted-by":"crossref","first-page":"2478","DOI":"10.1038\/nprot.2017.124","article-title":"Chromatin-state discovery and genome annotation with ChromHMM","volume":"12","author":"Ernst","year":"2017","journal-title":"Nat. Protocols"},{"key":"2023051607125467600_btab514-B12","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1038\/ng.3404","article-title":"Partitioning heritability by functional annotation using genome-wide association summary statistics","volume":"47","author":"Finucane","year":"2015","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B13","doi-asserted-by":"crossref","first-page":"e1007436","DOI":"10.1371\/journal.pcbi.1007436","article-title":"EAGLE: an algorithm that utilizes a small number of genomic features to predict tissue\/cell type-specific enhancer-gene interactions","volume":"15","author":"Gao","year":"2019","journal-title":"PLoS Comput. Biol"},{"key":"2023051607125467600_btab514-B14","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1038\/s41588-018-0156-2","article-title":"Genetic determinants of co-accessible chromatin regions in activated T cells across humans","volume":"50","author":"Gate","year":"2018","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B15","doi-asserted-by":"crossref","first-page":"45040","DOI":"10.1038\/srep45040","article-title":"1000 genomes-based meta-analysis identifies 10 novel loci for kidney function","volume":"7","author":"Gorski","year":"2017","journal-title":"Sci. Rep"},{"key":"2023051607125467600_btab514-B16","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.ajhg.2014.10.004","article-title":"Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases","volume":"95","author":"Gusev","year":"2014","journal-title":"Am. J. Hum. Genet"},{"key":"2023051607125467600_btab514-B17","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng.3506","article-title":"Integrative approaches for large-scale transcriptome-wide association studies","volume":"48","author":"Gusev","year":"2016","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B18","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nature07829","article-title":"Histone modifications at human enhancers reflect global cell-type-specific gene expression","volume":"459","author":"Heintzman","year":"2009","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B19","doi-asserted-by":"crossref","first-page":"10597","DOI":"10.1093\/nar\/gkz808","article-title":"Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification","volume":"47","author":"Hoffman","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2023051607125467600_btab514-B20","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1038\/s41588-018-0064-5","article-title":"A large electronic-health-record-based genome-wide study of serum lipids","volume":"50","author":"Hoffmann","year":"2018","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B21","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1534\/genetics.114.167908","article-title":"Identifying causal variants at loci with multiple signals of association","volume":"198","author":"Hormozdiari","year":"2014","journal-title":"Genetics"},{"key":"2023051607125467600_btab514-B22","doi-asserted-by":"crossref","first-page":"280","DOI":"10.3389\/fgene.2013.00280","article-title":"A review of post-GWAS prioritization approaches","volume":"4","author":"Hou","year":"2013","journal-title":"Front. Genet"},{"key":"2023051607125467600_btab514-B23","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.cell.2008.07.008","article-title":"Robust stability of the embryonic axial pattern requires a secreted scaffold for chordin degradation","volume":"134","author":"Inomata","year":"2008","journal-title":"Cell"},{"key":"2023051607125467600_btab514-B24","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/s41588-018-0322-6","article-title":"GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals","volume":"51","author":"Iotchkova","year":"2019","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B25","doi-asserted-by":"crossref","first-page":"R182","DOI":"10.1093\/hmg\/ddr378","article-title":"Genetic risk prediction in complex disease","volume":"20","author":"Jostins","year":"2011","journal-title":"Hum. Mol. Genet"},{"key":"2023051607125467600_btab514-B26","doi-asserted-by":"crossref","first-page":"D480","DOI":"10.1093\/nar\/gkm882","article-title":"KEGG for linking genomes to life and the environment","volume":"36","author":"Kanehisa","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"2023051607125467600_btab514-B27","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/s41576-018-0089-8","article-title":"Chromatin accessibility and the regulatory epigenome","volume":"20","author":"Klemm","year":"2019","journal-title":"Nat. Rev. Genet"},{"key":"2023051607125467600_btab514-B28","doi-asserted-by":"crossref","first-page":"E280","DOI":"10.1002\/ajh.24333","article-title":"Autoimmune diseases and myelodysplastic syndromes","volume":"91","author":"Komrokji","year":"2016","journal-title":"Am. J. Hematol"},{"key":"2023051607125467600_btab514-B29","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/art.40398","article-title":"Transcriptional regulation of CD 4+ T cell differentiation in experimentally induced arthritis and rheumatoid arthritis","volume":"70","author":"Kondo","year":"2018","journal-title":"Arthr. Rheumatol"},{"key":"2023051607125467600_btab514-B30","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1517\/14712590903020759","article-title":"Treating autoimmune disease by targeting CD8+ T suppressor cells","volume":"9","author":"Konya","year":"2009","journal-title":"Expert Opin. Biol. Therapy"},{"key":"2023051607125467600_btab514-B31","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/ng.3467","article-title":"Fine-mapping cellular QTLs with RASQUAL and ATAC-seq","volume":"48","author":"Kumasaka","year":"2016","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B32","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng.3331","article-title":"A method to predict the impact of regulatory variants from DNA sequence","volume":"47","author":"Lee","year":"2015","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B33","doi-asserted-by":"crossref","first-page":"21364","DOI":"10.1073\/pnas.1922703117","article-title":"A method for scoring the cell type-specific impacts of noncoding variants in personal genomes","volume":"117","author":"Li","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2023051607125467600_btab514-B34","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/s41588-020-0676-4","article-title":"Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale","volume":"52","author":"Li","year":"2020","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B35","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/rheumatology\/kes305","article-title":"The risk of infections associated with rheumatoid arthritis, with its comorbidity and treatment","volume":"52","author":"Listing","year":"2013","journal-title":"Rheumatology"},{"key":"2023051607125467600_btab514-B36","doi-asserted-by":"publisher","first-page":"610642","DOI":"10.1101\/610642","article-title":"DeepCAGE: incorporating transcription factors in genome-wide prediction of chromatin accessibility","author":"Liu","year":"2021","journal-title":"bioRxiv"},{"key":"2023051607125467600_btab514-B37","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1186\/ar2135","article-title":"Bone morphogenetic proteins in destructive and remodeling arthritis","volume":"9","author":"Lories","year":"2007","journal-title":"Arthr. Res. Therapy"},{"key":"2023051607125467600_btab514-B38","doi-asserted-by":"crossref","first-page":"e1005947","DOI":"10.1371\/journal.pgen.1005947","article-title":"Integrative tissue-specific functional annotations in the human genome provide novel insights on many complex traits and improve signal prioritization in genome wide association studies","volume":"12","author":"Lu","year":"2016","journal-title":"PLoS Genet"},{"key":"2023051607125467600_btab514-B39","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1126\/science.1222794","article-title":"Systematic localization of common disease-associated variation in regulatory DNA","volume":"337","author":"Maurano","year":"2012","journal-title":"Science"},{"key":"2023051607125467600_btab514-B40","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1016\/S0140-6736(17)31472-1","article-title":"Pathogenetic insights from the treatment of rheumatoid arthritis","volume":"389","author":"McInnes","year":"2017","journal-title":"Lancet"},{"key":"2023051607125467600_btab514-B41","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.jaci.2018.04.011","article-title":"Does reduced zona pellucida binding protein 2 (ZPBP2) expression on chromosome 17q21 protect against asthma?","volume":"142","author":"Miller","year":"2018","journal-title":"J. Allergy Clin. Immunol"},{"key":"2023051607125467600_btab514-B42","doi-asserted-by":"crossref","first-page":"i92","DOI":"10.1093\/bioinformatics\/btx234","article-title":"Chromatin accessibility prediction via convolutional long short-term memory networks with k-mer embedding","volume":"33","author":"Min","year":"2017","journal-title":"Bioinformatics"},{"key":"2023051607125467600_btab514-B43","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/s41586-021-03446-x","article-title":"Genome-wide enhancer maps link risk variants to disease genes","volume":"593","author":"Nasser","year":"2021","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B44","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1136\/ard.62.7.644","article-title":"Prevalence of self reported musculoskeletal diseases is high","volume":"62","author":"Picavet","year":"2003","journal-title":"Ann. Rheum. Dis"},{"key":"2023051607125467600_btab514-B45","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1136\/ard.2009.117309","article-title":"Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NF\u03baB signalling pathways","volume":"69","author":"Potter","year":"2010","journal-title":"Ann. Rheum. Dis"},{"key":"2023051607125467600_btab514-B46","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2023051607125467600_btab514-B47","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/nmeth.2832","article-title":"Functional annotation of noncoding sequence variants","volume":"11","author":"Ritchie","year":"2014","journal-title":"Nat. Methods"},{"key":"2023051607125467600_btab514-B48","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.jaut.2012.01.001","article-title":"Prevalence of anti-toxoplasma antibodies in patients with autoimmune diseases","volume":"39","author":"Shapira","year":"2012","journal-title":"J. Autoimmun"},{"key":"2023051607125467600_btab514-B49","doi-asserted-by":"crossref","first-page":"453","DOI":"10.2174\/138920207783591690","article-title":"The HLA region and autoimmune disease: associations and mechanisms of action","volume":"8","author":"Simmonds","year":"2007","journal-title":"Curr. Genom"},{"key":"2023051607125467600_btab514-B50","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1093\/bioinformatics\/btu326","article-title":"SNPsea: an algorithm to identify cell types, tissues and pathways affected by risk loci","volume":"30","author":"Slowikowski","year":"2014","journal-title":"Bioinformatics"},{"key":"2023051607125467600_btab514-B51","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s00296-013-2939-1","article-title":"The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population","volume":"34","author":"Son","year":"2014","journal-title":"Rheumatol. Int"},{"key":"2023051607125467600_btab514-B52","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1038\/s41588-019-0493-9","article-title":"Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases","volume":"51","author":"Soskic","year":"2019","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B53","doi-asserted-by":"crossref","first-page":"6062","DOI":"10.1073\/pnas.0400782101","article-title":"A gene atlas of the mouse and human protein-encoding transcriptomes","volume":"101","author":"Su","year":"2004","journal-title":"Proc. Natl. Acad. Sci"},{"key":"2023051607125467600_btab514-B54","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/j.humimm.2008.08.283","article-title":"Inhibitory CD8+ T cells in autoimmune disease","volume":"69","author":"Suzuki","year":"2008","journal-title":"Hum. Immunol"},{"key":"2023051607125467600_btab514-B55","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/nrrheum.2009.184","article-title":"CD19: a promising B cell target for rheumatoid arthritis","volume":"5","author":"Tedder","year":"2009","journal-title":"Nat. Rev. Rheumatol"},{"key":"2023051607125467600_btab514-B56","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/nature09270","article-title":"Biological, clinical and population relevance of 95 loci for blood lipids","volume":"466","author":"Teslovich","year":"2010","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B57","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1038\/s41588-019-0504-x","article-title":"Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels","volume":"51","author":"Tin","year":"2019","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B58","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1007\/s12035-009-8076-x","article-title":"Olfactomedin domain-containing proteins: possible mechanisms of action and functions in normal development and pathology","volume":"40","author":"Tomarev","year":"2009","journal-title":"Mol. Neurobiol"},{"key":"2023051607125467600_btab514-B59","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1038\/s41588-019-0385-z","article-title":"Opportunities and challenges for transcriptome-wide association studies","volume":"51","author":"Wainberg","year":"2019","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B60","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1038\/ng.154","article-title":"Combinatorial patterns of histone acetylations and methylations in the human genome","volume":"40","author":"Wang","year":"2008","journal-title":"Nat. Genet"},{"key":"2023051607125467600_btab514-B61","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-017-01261-5","article-title":"Functional mapping and annotation of genetic associations with FUMA","volume":"8","author":"Watanabe","year":"2017","journal-title":"Nat. Commun"},{"key":"2023051607125467600_btab514-B62","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/s41586-020-2222-z","article-title":"Notch signalling drives synovial fibroblast identity and arthritis pathology","volume":"582","author":"Wei","year":"2020","journal-title":"Nature"},{"key":"2023051607125467600_btab514-B63","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2010.11.011","article-title":"GCTA: a tool for genome-wide complex trait analysis","volume":"88","author":"Yang","year":"2011","journal-title":"Am. J. Hum. Genet"},{"key":"2023051607125467600_btab514-B64","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1089\/omi.2011.0118","article-title":"clusterProfiler: an R package for comparing biological themes among gene clusters","volume":"16","author":"Yu","year":"2012","journal-title":"Omics J. Integrative Biol"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/bioinformatics\/advance-article-pdf\/doi\/10.1093\/bioinformatics\/btab514\/39510853\/btab514.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/37\/24\/4737\/50334654\/btab514.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/37\/24\/4737\/50334654\/btab514.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T16:42:03Z","timestamp":1725381723000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/37\/24\/4737\/6321451"}},"subtitle":[],"editor":[{"given":"Russell","family":"Schwartz","sequence":"additional","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2021,7,14]]},"references-count":64,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2021,12,11]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btab514","relation":{},"ISSN":["1367-4803","1367-4811"],"issn-type":[{"type":"print","value":"1367-4803"},{"type":"electronic","value":"1367-4811"}],"subject":[],"published-other":{"date-parts":[[2021,12,15]]},"published":{"date-parts":[[2021,7,14]]}}}