{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:45:14Z","timestamp":1791499514010,"version":"4.3.4"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,7,21]],"date-time":"2016-07-21T00:00:00Z","timestamp":1469059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vox Sanguinis"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Patients suffering from haemoglobinopathies may be treated by red blood cell (<jats:styled-content style=\"fixed-case\">RBC<\/jats:styled-content>) transfusion on a regular basis and then exposed to multiple antigens with a recurrent, potential risk of alloimmunization routinely prevented by extended <jats:styled-content style=\"fixed-case\">RBC<\/jats:styled-content> antigen cross\u2010matching. While time\u2010consuming and labour\u2010intensive serological analyses are the gold standard for <jats:styled-content style=\"fixed-case\">RBC<\/jats:styled-content> typing, genotyping by current high\u2010throughput molecular tools, including next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>), appears to offer a potent alternative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design and Methods<\/jats:title><jats:p>The potential of extended blood group genotyping (<jats:styled-content style=\"fixed-case\">EBGG<\/jats:styled-content>) by <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> of 17 genes involved in 14 blood group systems was evaluated in a cohort of 48 patients with sickle\u2010cell disease. Sample preparation and sequencing were simplified and automated for future routine implementation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sequencing data were obtained for all <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples with two different sequencing machines. Prediction of phenotypes could be made in 12 blood group systems and partially in two other blood group systems (Rh and <jats:styled-content style=\"fixed-case\">MNS<\/jats:styled-content>). Importantly, predicted phenotypes in the <jats:styled-content style=\"fixed-case\">MNS<\/jats:styled-content> (S\/s), Duffy, Kidd and Kell systems matched well with serological data (98\u00b79%), when available. Unreferenced alleles in the <jats:italic><jats:styled-content style=\"fixed-case\">ACHE<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ART<\/jats:styled-content>4<\/jats:italic> genes, respectively, involved in the Yt and Dombrock blood groups, were identified, then contributing to extend the current knowledge of blood group molecular genetics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Overall, we consider that our strategy for <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>\u2010based <jats:styled-content style=\"fixed-case\">EBGG<\/jats:styled-content>, assisted by a simple method for genotyping exons 1 and 2 of the pairs of homologous genes (i.e. <jats:italic><jats:styled-content style=\"fixed-case\">RHD<\/jats:styled-content><\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">RHCE<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">GYPA<\/jats:styled-content><\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">GYPB<\/jats:styled-content><\/jats:italic>), as well as the future support of potent bioinformatics tools, may be implemented for routine diagnosis in specific populations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vox.12432","type":"journal-article","created":{"date-parts":[[2016,7,21]],"date-time":"2016-07-21T19:26:51Z","timestamp":1469129211000},"page":"418-424","source":"Crossref","is-referenced-by-count":42,"title":["The experience of extended blood group genotyping by next\u2010generation sequencing (NGS): investigation of patients with sickle\u2010cell disease"],"prefix":"10.1111","volume":"111","author":[{"given":"Y.","family":"Fichou","sequence":"first","affiliation":[{"name":"Etablissement Fran\u00e7ais du Sang (EFS) \u2013 R\u00e9gion Bretagne Brest France"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm), UMR1078 Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mariez","sequence":"additional","affiliation":[{"name":"Etablissement Fran\u00e7ais du Sang (EFS) \u2013 R\u00e9gion Bretagne Brest France"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm), UMR1078 Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Le Mar\u00e9chal","sequence":"additional","affiliation":[{"name":"Etablissement Fran\u00e7ais du Sang (EFS) \u2013 R\u00e9gion Bretagne Brest France"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm), UMR1078 Brest France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9 Centre Hospitalier R\u00e9gional Universitaire (CHRU) H\u00f4pital Morvan Brest France"},{"name":"Facult\u00e9 de M\u00e9decine et des Sciences de la Sant\u00e9 Universit\u00e9 de Bretagne Occidentale (UBO) Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"F\u00e9rec","sequence":"additional","affiliation":[{"name":"Etablissement Fran\u00e7ais du Sang (EFS) \u2013 R\u00e9gion Bretagne Brest France"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm), UMR1078 Brest France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9 Centre Hospitalier R\u00e9gional Universitaire (CHRU) H\u00f4pital Morvan Brest France"},{"name":"Facult\u00e9 de M\u00e9decine et des Sciences de la Sant\u00e9 Universit\u00e9 de Bretagne Occidentale (UBO) Brest 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