{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T07:37:56Z","timestamp":1777793876520,"version":"3.51.4"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2016,10,2]],"date-time":"2016-10-02T00:00:00Z","timestamp":1475366400000},"content-version":"vor","delay-in-days":1131,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: Genotype imputation methods are used to enhance the resolution of genome-wide association studies, and thus increase the detection rate for genetic signals. Although most studies report all univariate summary statistics, many of them limit the access to subject-level genotypes. Because such an access is required by all genotype imputation methods, it is helpful to develop methods that impute summary statistics without going through the interim step of imputing genotypes. Even when subject-level genotypes are available, due to the substantial computational cost of the typical genotype imputation, there is a need for faster imputation methods.<\/jats:p>\n               <jats:p>Results: Direct Imputation of summary STatistics (DIST) imputes the summary statistics of untyped variants without first imputing their subject-level genotypes. This is achieved by (i) using the conditional expectation formula for multivariate normal variates and (ii) using the correlation structure from a relevant reference population. When compared with genotype imputation methods, DIST (i) requires only a fraction of their computational resources, (ii) has comparable imputation accuracy for independent subjects and (iii) is readily applicable to the imputation of association statistics coming from large pedigree data. Thus, the proposed application is useful for a fast imputation of summary results for (i) studies of unrelated subjects, which (a) do not provide subject-level genotypes or (b) have a large size and (ii) family association studies.<\/jats:p>\n               <jats:p>Availability and implementation: Pre-compiled executables built under commonly used operating systems are publicly available at http:\/\/code.google.com\/p\/dist\/.<\/jats:p>\n               <jats:p>Contact: \u00a0dlee4@vcu.edu<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btt500","type":"journal-article","created":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T00:39:04Z","timestamp":1377823144000},"page":"2925-2927","source":"Crossref","is-referenced-by-count":78,"title":["DIST: direct imputation of summary statistics for unmeasured SNPs"],"prefix":"10.1093","volume":"29","author":[{"given":"Donghyung","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. Bernard","family":"Bigdeli","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brien P.","family":"Riley","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayman H.","family":"Fanous","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silviu-Alin","family":"Bacanu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,8,28]]},"reference":[{"key":"2023012810483390300_btt500-B1","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"Altshuler","year":"2010","journal-title":"Nature"},{"key":"2023012810483390300_btt500-B2","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1086\/521987","article-title":"Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering","volume":"81","author":"Browning","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"2023012810483390300_btt500-B3","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1038\/ng1885","article-title":"A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC","volume":"38","author":"de Bakker","year":"2006","journal-title":"Nat. Genet."},{"key":"2023012810483390300_btt500-B4","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nmeth.1785","article-title":"A linear complexity phasing method for thousands of genomes","volume":"9","author":"Delaneau","year":"2012","journal-title":"Nat. Methods"},{"key":"2023012810483390300_btt500-B5","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1159\/000119108","article-title":"Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data","volume":"66","author":"Dudbridge","year":"2008","journal-title":"Hum. Hered."},{"key":"2023012810483390300_btt500-B6","doi-asserted-by":"crossref","first-page":"9362","DOI":"10.1073\/pnas.0903103106","article-title":"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits","volume":"106","author":"Hindorff","year":"2009","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"2023012810483390300_btt500-B7","doi-asserted-by":"crossref","first-page":"e1000529","DOI":"10.1371\/journal.pgen.1000529","article-title":"A flexible and accurate genotype imputation method for the next generation of genome-wide association studies","volume":"5","author":"Howie","year":"2009","journal-title":"PLoS Genet."},{"key":"2023012810483390300_btt500-B8","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/nature09410","article-title":"Hundreds of variants clustered in genomic loci and biological pathways affect human height","volume":"467","author":"Lango","year":"2010","journal-title":"Nature"},{"key":"2023012810483390300_btt500-B9","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1146\/annurev.genom.9.081307.164242","article-title":"Genotype imputation","volume":"10","author":"Li","year":"2009","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"2023012810483390300_btt500-B10","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1002\/gepi.20533","article-title":"MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes","volume":"34","author":"Li","year":"2010","journal-title":"Genet. Epidemiol."},{"key":"2023012810483390300_btt500-B11","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.ajhg.2007.11.004","article-title":"Simple and efficient analysis of disease association with missing genotype data","volume":"82","author":"Lin","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"2023012810483390300_btt500-B12","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.ajhg.2008.09.007","article-title":"Comparing algorithms for genotype imputation","volume":"83","author":"Marchini","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"2023012810483390300_btt500-B13","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/nrg2796","article-title":"Genotype imputation for genome-wide association studies","volume":"11","author":"Marchini","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"2023012810483390300_btt500-B14","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"2023012810483390300_btt500-B15","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1371\/journal.pgen.0030114","article-title":"Imputation-based analysis of association studies: candidate regions and quantitative traits","volume":"3","author":"Servin","year":"2007","journal-title":"PLoS Genet."},{"key":"2023012810483390300_btt500-B16","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1086\/519497","article-title":"Case-control association testing with related individuals: a more powerful quasi-likelihood score test","volume":"81","author":"Thornton","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"2023012810483390300_btt500-B17","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/bioinformatics\/btm603","article-title":"Association studies for untyped markers with TUNA","volume":"24","author":"Wen","year":"2008","journal-title":"Bioinformatics"},{"key":"2023012810483390300_btt500-B18","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1214\/10-AOAS338","article-title":"Using linear predictors to impute allele frequencies from summary or pooled genotype data","volume":"4","author":"Wen","year":"2010","journal-title":"Ann. Appl. Stat."}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/29\/22\/2925\/48893851\/bioinformatics_29_22_2925.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/29\/22\/2925\/48893851\/bioinformatics_29_22_2925.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,28]],"date-time":"2023-01-28T12:48:37Z","timestamp":1674910117000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/29\/22\/2925\/315390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,28]]},"references-count":18,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2013,11,15]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btt500","relation":{},"ISSN":["1367-4811","1367-4803"],"issn-type":[{"value":"1367-4811","type":"electronic"},{"value":"1367-4803","type":"print"}],"subject":[],"published-other":{"date-parts":[[2013,11,15]]},"published":{"date-parts":[[2013,8,28]]}}}