{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T03:49:07Z","timestamp":1765079347308,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,26]],"date-time":"2018-02-26T00:00:00Z","timestamp":1519603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010847","name":"Coeliac Australia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010847","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001782","name":"University of Melbourne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001782","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["HLA"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>A hallmark of coeliac disease (CD) is the exceptionally strong genetic association with HLA\u2010DQ2.5, DQ8, and DQ2.2. HLA typing provides information on CD risk important to both clinicians and researchers. A method that enables simple and fast detection of all CD risk genotypes is particularly desirable for the study of large populations. Single nucleotide polymorphism (SNP)\u2010based HLA typing can detect the CD risk genotypes by detecting a combination of six SNPs but this approach can struggle to resolve HLA\u2010DQ2.2, seen in 4% of European CD patients, because of the low resolution of one negatively predicting SNP. We sought to optimise SNP\u2010based HLA typing by harnessing the additional resolution of digital droplet PCR to resolve HLA\u2010DQ2.2. Here we test this two\u2010step approach in an unselected sample of Mexican DNA and compare its accuracy to DNA typed using traditional exon detection. The addition of digital droplet PCR for samples requiring negative prediction of HLA\u2010DQ2.2 enabled HLA\u2010DQ2.2 to be accurately typed. This technique is a simple addition to a SNP\u2010based typing strategy and enables comprehensive definition of all at\u2010risk HLA genotypes in CD in a timely and cost\u2010effective manner.<\/jats:p>","DOI":"10.1111\/tan.13219","type":"journal-article","created":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T14:09:10Z","timestamp":1516802950000},"page":"280-288","source":"Crossref","is-referenced-by-count":4,"title":["Resolving incomplete single nucleotide polymorphism tagging of HLA\u2010DQ2.2 for coeliac disease genotyping using digital droplet PCR"],"prefix":"10.1111","volume":"91","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4923-0678","authenticated-orcid":false,"given":"M. Y.","family":"Hardy","sequence":"first","affiliation":[{"name":"Immunology Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Australia"},{"name":"Department of Medical Biology University of Melbourne  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Ontiveros","sequence":"additional","affiliation":[{"name":"Immunology Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Australia"},{"name":"Department of Medical Biology University of Melbourne  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. D.","family":"Varney","sequence":"additional","affiliation":[{"name":"Victorian Transplantation and Immunogenetics Service Australian Red Cross Blood Service  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Tye\u2010Din","sequence":"additional","affiliation":[{"name":"Immunology Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Australia"},{"name":"Department of Medical Biology University of Melbourne  Melbourne Australia"},{"name":"Department of Gastroenterology The Royal Melbourne Hospital  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/cti.2016.58"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0198-8859(03)00027-2"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0138324"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/imj.12716"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2135229100"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-11-188"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31821a23d0"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002270"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00251-009-0361-3"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-61779-842-9_3"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.04.007"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2014.77"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0074442"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/00365513.2016.1230773"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0039.2000.560503.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.3109\/08820131003681151"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2012.408"}],"container-title":["HLA"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Ftan.13219","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/tan.13219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T04:41:54Z","timestamp":1695616914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/tan.13219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,26]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1111\/tan.13219"],"URL":"https:\/\/doi.org\/10.1111\/tan.13219","archive":["Portico"],"relation":{},"ISSN":["2059-2302","2059-2310"],"issn-type":[{"type":"print","value":"2059-2302"},{"type":"electronic","value":"2059-2310"}],"subject":[],"published":{"date-parts":[[2018,2,26]]}}}