{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T06:11:55Z","timestamp":1778479915936,"version":"3.51.4"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":81,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PRECISION Health Research, Singapore"},{"name":"Wellcome Trust Career Development Award","award":["227824\/Z\/23\/Z (UNS146816)"],"award-info":[{"award-number":["227824\/Z\/23\/Z (UNS146816)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genome-wide association studies (GWAS) have identified numerous genetic variants linked to breast cancer risk, but most discoveries come from European populations, limiting their applicability to other populations. Here, we show that the choice of genotype imputation reference panel, an essential step for GWAS, affects variant detection in Asian populations. Using two large breast cancer datasets from the Breast Cancer Association Consortium (n\u2009=\u200938\u2009954 Asian samples), we compared the 1000 Genomes (1KG) reference panel with SG10K_Health (SG10K), an Asian-specific panel. SG10K imputed more rare variants and achieved higher accuracy for rare alleles (MAF\u2009&amp;lt;\u20090.001), while 1KG performed better for common variants in some contexts. Differences in panel performance influenced association signals, including breast cancer candidate loci such as FGFR2, TOX3, and ESR1. Together, these findings support the use of population-specific imputation panels as a means to improve variant discovery in underrepresented populations.<\/jats:p>","DOI":"10.1093\/hmg\/ddag015","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T17:39:20Z","timestamp":1774287560000},"source":"Crossref","is-referenced-by-count":0,"title":["A reanalysis of a genome-wide association study on breast cancer in Asian populations using the SG10K_Health reference panel for imputation: a multi-Centre case\u2013control analysis"],"prefix":"10.1093","volume":"35","author":[{"given":"Xuling","family":"Chang","sequence":"first","affiliation":[{"name":"Department of Infectious Diseases, University of Melbourne at the Peter Doherty Institute for Infection and Immunity , 792 Elizabeth St, Melbourne VIC 3000 ,","place":["Australia"]},{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore , 1E Kent Ridge Road, NUHS Tower Block, Level 12, Singapore 119228 ,","place":["Singapore"]},{"name":"Khoo Teck Puat \u2013 National University Children\u2019s Medical Institute, National University Health System , 5 Lower Kent Ridge Rd, Singapore 119074 ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shivaani","family":"Mariapun","sequence":"additional","affiliation":[{"name":"Cancer Research Malaysia , Level 1, Subang Jaya Medical Centre South Tower, 1, Jalan SS12\/1A, Ss 12, 47500 Subang Jaya, Selangor ,","place":["Malaysia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengyu","family":"Li","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR) , 60 Biopolis St, Genome, #02-01, Singapore 138672 ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Wang","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR) , 60 Biopolis St, Genome, #02-01, Singapore 138672 ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peh Joo","family":"Ho","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR) , 60 Biopolis St, Genome, #02-01, Singapore 138672 ,","place":["Singapore"]},{"name":"Saw Swee Hock School of Public Health, National University of Singapore and National University Health System , 12 Science Drive 2, #10-01, Singapore 117549 ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis Jiaying","family":"Khng","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR) , 60 Biopolis St, Genome, #02-01, Singapore 138672 ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth R","family":"Muir","sequence":"additional","affiliation":[{"name":"Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester , 46 Grafton Street, Manchester M13 9NT ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artitaya","family":"Lophatananon","sequence":"additional","affiliation":[{"name":"Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester , 46 Grafton Street, Manchester M13 9NT ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristan J","family":"Aronson","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences and Sinclair Cancer Research Institute, Queen\u2019s University , 355 King St. West, Kingston, ON K7L 2X3 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel A","family":"Murphy","sequence":"additional","affiliation":[{"name":"School of Population and Public Health, University of British Columbia , 2206 East Mall, Vancouver, BC V6T 1Z3 ,","place":["Canada"]},{"name":"BC Cancer , 600 W 10th Ave, Vancouver, BC V5Z 4E6 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ava","family":"Kwong","sequence":"additional","affiliation":[{"name":"Hong Kong Hereditary Breast Cancer Family Registry , 6\/F, No. 3 Tung Wong Road, Shau Kei Wan ,","place":["Hong Kong"]},{"name":"Department of Surgery, University of Hong Kong , 2\/F, Professorial Block, Queen Mary Hospital, 102 Pokfulam Road ,","place":["Hong Kong"]},{"name":"Breast Surgery Centre and Cancer Genetics Centre, Hong Kong Sanatorium and Hospital , 2 Village Rd, Happy Valley ,","place":["Hong Kong"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun Hang","family":"Au","sequence":"additional","affiliation":[{"name":"Molecular Pathology Division, Department of Pathology, Hong Kong Sanatorium and Hospital , 2 Village Rd, Happy Valley ,","place":["Hong Kong"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Won","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Surgery , 657 Siheung-daero, Yeongdeungpo District, Seoul ,","place":["Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5002-9707","authenticated-orcid":false,"given":"Sue K","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Seoul National University College of Medicine , 103 Daehak-ro, Jongno-gu, Seoul 03080 ,","place":["Republic of Korea"]},{"name":"Integrated Major in Innovative Medical Science, Seoul National University College of Medicine , 103 Daehak-ro, Jongno-gu, Seoul 03080 ,","place":["Republic of Korea"]},{"name":"Cancer Research Institute, Seoul National University , 103 Daehak-ro, Jongno-gu, Seoul 03080 ,","place":["Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel O","family":"Stram","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Keck School of Medicine, University of Southern California , 1975 Zonal Ave, Los Angeles, CA 90033 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna H","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Population Health and Public Health Sciences, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center , 1441 Eastlake Ave, Los Angeles, CA 90033 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo-Hwang","family":"Teo","sequence":"additional","affiliation":[{"name":"Cancer Research Malaysia , Level 1, Subang Jaya Medical Centre South Tower, 1, Jalan SS12\/1A, Ss 12, 47500 Subang Jaya, Selangor ,","place":["Malaysia"]},{"name":"Department of Surgery, Faculty of Medicine, University of Malaya, UM Cancer Research Institute , Kuala Lumpur 50603 ,","place":["Malaysia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng-Har","family":"Yip","sequence":"additional","affiliation":[{"name":"Sime Darby Medical Centre , No. 1, Jalan SS 12\/1A, Ss 12, 47500 Subang Jaya, Selangor ,","place":["Malaysia"]},{"name":"Picaso Hospital , 110, Jalan Professor Khoo Kay Kim, Seksyen 19, 46300 Petaling Jaya, Selangor ,","place":["Malaysia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nur Aishah Mohd","family":"Tai","sequence":"additional","affiliation":[{"name":"Department of Surgery, Faculty of Medicine, University of Malaya, UM Cancer Research Institute , Kuala Lumpur 50603 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Drive, Stanford, CA 94305 ,","place":["USA"]},{"name":"Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine , Edwards Building, Suite R106, 300 Pasteur Drive, Stanford, CA 94305 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3319-4131","authenticated-orcid":false,"given":"Motoki","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Division of Epidemiology, National Cancer Center Institute for Cancer Control , 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4799-8782","authenticated-orcid":false,"given":"Taiki","family":"Yamaji","sequence":"additional","affiliation":[{"name":"Division of Epidemiology, National Cancer Center Institute for Cancer Control , 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 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Singapore Health Services (SingHealth) , Singapore30 Hospital Boulevard, Singapore 168583 ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"2026051101514459900_ref1","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/s41588-020-0609-2","article-title":"Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses","volume":"52","author":"Zhang","year":"2020","journal-title":"Nat Genet"},{"key":"2026051101514459900_ref2","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/nature24284","article-title":"Association analysis identifies 65 new breast cancer risk loci","volume":"551","author":"Michailidou","year":"2017","journal-title":"Nature"},{"key":"2026051101514459900_ref3","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.1038\/ng.3785","article-title":"Identification of ten 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