{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:45:08Z","timestamp":1740185108759,"version":"3.37.3"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T00:00:00Z","timestamp":1546905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01AG023755","U19AG023122","R21AG056630"],"award-info":[{"award-number":["U01AG023755","U19AG023122","R21AG056630"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013195","name":"William M. Wood Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013195","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Paulette and Marty Samowitz Family Foundation"},{"name":"Longevity Genes Project","award":["R01AG618381","R01AG042188","R01AG046949","P01AG021654"],"award-info":[{"award-number":["R01AG618381","R01AG042188","R01AG046949","P01AG021654"]}]},{"name":"Einstein Nathan Shock Center","award":["P30AG038072"],"award-info":[{"award-number":["P30AG038072"]}]},{"name":"Einstein Glenn Center for the Biology of Human Aging"},{"name":"Health and Retirement Study"},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01AG009740","RC2AG036495","RC4AG039029"],"award-info":[{"award-number":["U01AG009740","RC2AG036495","RC4AG039029"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007270","name":"University of Michigan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007270","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>Over the last decade, more diverse populations have been included in genome-wide association studies. If a genetic variant has a varying effect on a phenotype in different populations, genome-wide association studies applied to a dataset as a whole may not pinpoint such differences. It is especially important to be able to identify population-specific effects of genetic variants in studies that would eventually lead to development of diagnostic tests or drug discovery.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In this paper, we propose PopCluster: an algorithm to automatically discover subsets of individuals in which the genetic effects of a variant are statistically different. PopCluster provides a simple framework to directly analyze genotype data without prior knowledge of subjects\u2019 ethnicities. PopCluster combines logistic regression modeling, principal component analysis, hierarchical clustering and a recursive bottom-up tree parsing procedure. The evaluation of PopCluster suggests that the algorithm has a stable low false positive rate (\u223c4%) and high true positive rate (&amp;gt;80%) in simulations with large differences in allele frequencies between cases and controls. Application of PopCluster to data from genetic studies of longevity discovers ethnicity-dependent heterogeneity in the association of rs3764814 (USP42) with the phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>PopCluster was implemented using the R programming language, PLINK and Eigensoft software, and can be found at the following GitHub repository: https:\/\/github.com\/gurinovich\/PopCluster with instructions on its installation and usage.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btz017","type":"journal-article","created":{"date-parts":[[2019,1,4]],"date-time":"2019-01-04T20:11:19Z","timestamp":1546632679000},"page":"3046-3054","source":"Crossref","is-referenced-by-count":5,"title":["PopCluster: an algorithm to identify genetic variants with ethnicity-dependent effects"],"prefix":"10.1093","volume":"35","author":[{"given":"Anastasia","family":"Gurinovich","sequence":"first","affiliation":[{"name":"Bioinformatics Program, Boston University , Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold","family":"Bae","sequence":"additional","affiliation":[{"name":"College of Public Health and Human Sciences, Oregon State University , Corvallis, OR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J","family":"Farrell","sequence":"additional","affiliation":[{"name":"Boston University School of Medicine Department of Medicine, , Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacy L","family":"Andersen","sequence":"additional","affiliation":[{"name":"Boston University School of Medicine Department of Medicine, , Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Monti","sequence":"additional","affiliation":[{"name":"Boston University School of Medicine Department of Medicine, , Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annibale","family":"Puca","sequence":"additional","affiliation":[{"name":"University of Salerno Department of Medicine and Surgery, , Fisciano, Italy"},{"name":"Cardiovascular Research Unit, IRCCS MultiMedica , Sesto San Giovanni, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gil","family":"Atzmon","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine Department of Medicine and Department of Genetics, , Bronx, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nir","family":"Barzilai","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine Department of Medicine and Department of Genetics, , Bronx, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas T","family":"Perls","sequence":"additional","affiliation":[{"name":"Boston University School of Medicine Department of Medicine, , Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Sebastiani","sequence":"additional","affiliation":[{"name":"Boston University School of Public Health Department of Biostatistics, , Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,1,8]]},"reference":[{"key":"2023062711300342200_btz017-B1","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/gerona\/glr223","article-title":"Health span approximates life span among many supercentenarians: compression of morbidity at the approximate limit of life span","volume":"67A","author":"Andersen","year":"2012","journal-title":"J. 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