{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T17:58:15Z","timestamp":1781027895441,"version":"3.54.1"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"D1","license":[{"start":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T00:00:00Z","timestamp":1604016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007197","name":"United States Public Health Service","doi-asserted-by":"publisher","award":["R24 DK106766"],"award-info":[{"award-number":["R24 DK106766"]}],"id":[{"id":"10.13039\/100007197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007197","name":"United States Public Health Service","doi-asserted-by":"publisher","award":["R01 GM121613"],"award-info":[{"award-number":["R01 GM121613"]}],"id":[{"id":"10.13039\/100007197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["FP6-026539"],"award-info":[{"award-number":["FP6-026539"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["FP7-200754"],"award-info":[{"award-number":["FP7-200754"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["FP7-305444"],"award-info":[{"award-number":["FP7-305444"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Golden Helix Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>HbVar (http:\/\/globin.bx.psu.edu\/hbvar) is a widely-used locus-specific database (LSDB) launched 20 years ago by a multi-center academic effort to provide timely information on the numerous genomic variants leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Here, we report several advances for the database. We made clinically relevant updates of HbVar, implemented as additional querying options in the HbVar query page, allowing the user to explore the clinical phenotype of compound heterozygous patients. We also made significant improvements to the HbVar front page, making comparative data querying, analysis and output more user-friendly. We continued to expand and enrich the regular data content, involving 1820 variants, 230 of which are new entries. We also increased the querying potential and expanded the usefulness of HbVar database in the clinical setting. These several additions, expansions and updates should improve the utility of HbVar both for the globin research community and in a clinical setting.<\/jats:p>","DOI":"10.1093\/nar\/gkaa959","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T19:14:19Z","timestamp":1602098059000},"page":"D1192-D1196","source":"Crossref","is-referenced-by-count":113,"title":["Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations"],"prefix":"10.1093","volume":"49","author":[{"given":"Belinda M","family":"Giardine","sequence":"first","affiliation":[{"name":"The Pennsylvania State University, Center for Computational Biology and Bioinformatics, University Park, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Joly","sequence":"additional","affiliation":[{"name":"Biochimie des pathologies \u00e9rythrocytaires, Laboratoire de Biochimie et Biologie Mol\u00e9culaire Grand-Est, Groupement hospitalier Est, Hospices Civils de Lyon, Bron, France"},{"name":"Laboratoire Interuniversitaire de Biologie de la Motricit\u00e9 (LIBM) EA7424, Equipe \u201cBiologie vasculaire et du globule rouge\u2019\u2019, Universit\u00e9 Claude Bernard Lyon 1, COMUE Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Pissard","sequence":"additional","affiliation":[{"name":"Assistance Publique Hopitaux de Paris), Department of Genetics GHU (Groupe Hospitalier Universitaire Henri Mondor) H. Mondor and Institut Mondor de Recherche biomedicale - INSERM U955 eq2, Creteil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Wajcman","sequence":"additional","affiliation":[{"name":"INSERM U955, CHU Henri Mondor, Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H","family":"K.\u00a0Chui","sequence":"additional","affiliation":[{"name":"Boston University School of Medicine, Department of Medicine, Pathology and Laboratory Medicine, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross C","family":"Hardison","sequence":"additional","affiliation":[{"name":"The Pennsylvania State University, Center for Computational Biology and Bioinformatics, University Park, PA, USA"},{"name":"Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0519-7776","authenticated-orcid":false,"given":"George P","family":"Patrinos","sequence":"additional","affiliation":[{"name":"University of Patras, School of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, Patras, Greece"},{"name":"Erasmus University Medical Center Rotterdam, Faculty of Medicine and Health Sciences, Department of Pathology, Bioinformatics Unit, Rotterdam, the Netherlands"},{"name":"United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain, UAE"},{"name":"United Arab Emirates University, Zayed Center of Health Sciences, Al-Ain, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,10,30]]},"reference":[{"key":"2021010313121680900_B1","volume-title":"The Thalassaemia Syndromes","author":"Weatherall","edition":"4th edn"},{"key":"2021010313121680900_B2","volume-title":"A Syllabus of Thalassemia Mutations","author":"Huisman","year":"1997"},{"key":"2021010313121680900_B3","volume-title":"A Syllabus of Human Hemoglobin Variants, 2nd edn","author":"Huisman","year":"1998"},{"key":"2021010313121680900_B4","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1002\/humu.21332","article-title":"Locus-specific databases domain and data content analysis: Evolution and content maturation towards clinical use","volume":"31","author":"Mitropoulou","year":"2010","journal-title":"Hum. Mutat."},{"key":"2021010313121680900_B5","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/humu.10044","article-title":"HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server","volume":"19","author":"Hardison","year":"2002","journal-title":"Hum. Mutat."},{"key":"2021010313121680900_B6","doi-asserted-by":"crossref","first-page":"D537","DOI":"10.1093\/nar\/gkh006","article-title":"Improvements in the HbVar human hemoglobin variants and thalassemia mutations for population and sequence variation studies","volume":"32","author":"Patrinos","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"2021010313121680900_B7","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/humu.9479","article-title":"HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update","volume":"28","author":"Giardine","year":"2007","journal-title":"Hum. 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