{"id":"https://openalex.org/W2004053059","doi":"https://doi.org/10.1093/nar/gkt911","title":"Updates of the HbVar database of human hemoglobin variants and thalassemia mutations","display_name":"Updates of the HbVar database of human hemoglobin variants and thalassemia mutations","publication_year":2013,"publication_date":"2013-10-16","ids":{"openalex":"https://openalex.org/W2004053059","doi":"https://doi.org/10.1093/nar/gkt911","mag":"2004053059","pmid":"https://pubmed.ncbi.nlm.nih.gov/24137000"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkt911","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkt911","pdf_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1063/16953711/gkt911.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1063/16953711/gkt911.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033108171","display_name":"Belinda Giardine","orcid":"https://orcid.org/0000-0002-4681-1074"},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]},{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]}],"countries":["FR","GR","US"],"is_corresponding":true,"raw_author_name":"Belinda Giardine","raw_affiliation_strings":["The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA, Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta, MGC-Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands, Department of Computer Engineering and Informatics, University of Patras, Faculty of Engineering, Patras, Greece, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece, Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France, H\u00f4pital Edouard Herriot, Unit\u00e9 de Pathologie Mol\u00e9culaire du Globule Rouge, Lyon, France, Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece, INSERM U955, CHU Henri Mondor, Creteil, France and Department of Biochemistry and Molecular Biology, The Pennsylvania State University, Univers","Pennsylvania State Univ#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA, Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta, MGC-Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands, Department of Computer Engineering and Informatics, University of Patras, Faculty of Engineering, Patras, Greece, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece, Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France, H\u00f4pital Edouard Herriot, Unit\u00e9 de Pathologie Mol\u00e9culaire du Globule Rouge, Lyon, France, Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece, INSERM U955, CHU Henri Mondor, Creteil, France and Department of Biochemistry and Molecular Biology, The Pennsylvania State University, Univers","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I174878644"]},{"raw_affiliation_string":"Pennsylvania State Univ#TAB#","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103178547","display_name":"Joseph Borg","orcid":"https://orcid.org/0000-0002-2220-5651"},"institutions":[{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]},{"id":"https://openalex.org/I197854408","display_name":"University of Malta","ror":"https://ror.org/03a62bv60","country_code":"MT","type":"education","lineage":["https://openalex.org/I197854408"]},{"id":"https://openalex.org/I4210091339","display_name":"Laboratory of Molecular Genetics","ror":"https://ror.org/00fwhek95","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210091339"]},{"id":"https://openalex.org/I4210103255","display_name":"Laboratoire de Biochimie","ror":"https://ror.org/01c6vgf77","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I142476485","https://openalex.org/I4210096427","https://openalex.org/I4210103255","https://openalex.org/I4210145102"]}],"countries":["FR","MT","NL","PL"],"is_corresponding":false,"raw_author_name":"Joseph Borg","raw_affiliation_strings":["Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta,","MGC-Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands,","Department of Physiology and Biochemistry, Laboratory of Molecular Genetics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta,","institution_ids":["https://openalex.org/I197854408"]},{"raw_affiliation_string":"MGC-Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands,","institution_ids":["https://openalex.org/I913958620"]},{"raw_affiliation_string":"Department of Physiology and Biochemistry, Laboratory of Molecular Genetics","institution_ids":["https://openalex.org/I4210091339","https://openalex.org/I4210103255"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082485823","display_name":"Emmanouil Viennas","orcid":null},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Emmanouil Viennas","raw_affiliation_strings":["Department of Computer Engineering and Informatics, University of Patras,","Faculty of Engineering, Patras, Greece,","University of Patras;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Engineering and Informatics, University of Patras,","institution_ids":["https://openalex.org/I174878644"]},{"raw_affiliation_string":"Faculty of Engineering, Patras, Greece,","institution_ids":["https://openalex.org/I174878644"]},{"raw_affiliation_string":"University of Patras;","institution_ids":["https://openalex.org/I174878644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029332375","display_name":"Cristiana Pavlidis","orcid":null},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Cristiana Pavlidis","raw_affiliation_strings":["Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece,","University of Patras;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece,","institution_ids":["https://openalex.org/I174878644"]},{"raw_affiliation_string":"University of Patras;","institution_ids":["https://openalex.org/I174878644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082236114","display_name":"Kamran Moradkhani","orcid":"https://orcid.org/0000-0003-2286-0100"},"institutions":[{"id":"https://openalex.org/I4210157800","display_name":"G\u00e9n\u00e9tique M\u00e9dicale & G\u00e9nomique Fonctionelle","ror":"https://ror.org/04fc8dp24","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I21491767","https://openalex.org/I4210111578","https://openalex.org/I4210157800"]},{"id":"https://openalex.org/I4210088869","display_name":"Institut National de Recherche en Sant\u00e9 Publique","ror":"https://ror.org/005haay02","country_code":"ML","type":"government","lineage":["https://openalex.org/I4210088869"]}],"countries":["FR","ML"],"is_corresponding":false,"raw_author_name":"Kamran Moradkhani","raw_affiliation_strings":["Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France,","Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France,","institution_ids":["https://openalex.org/I4210157800"]},{"raw_affiliation_string":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","institution_ids":["https://openalex.org/I4210088869"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059625193","display_name":"Philippe Joly","orcid":"https://orcid.org/0000-0002-2351-9441"},"institutions":[{"id":"https://openalex.org/I4210123600","display_name":"H\u00f4pital Edouard Herriot","ror":"https://ror.org/02qt1p572","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596","https://openalex.org/I4210123600"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Philippe Joly","raw_affiliation_strings":["Ho pital Edouard Herriot, Unite de Pathologie Mole culaire du Globule Rouge, Lyon, France,","H\u00f4pital \u00c9douard Herriot"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ho pital Edouard Herriot, Unite de Pathologie Mole culaire du Globule Rouge, Lyon, France,","institution_ids":["https://openalex.org/I4210123600"]},{"raw_affiliation_string":"H\u00f4pital \u00c9douard Herriot","institution_ids":["https://openalex.org/I4210123600"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065551336","display_name":"Marina Bartsakoulia","orcid":null},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Marina Bartsakoulia","raw_affiliation_strings":["Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece,","University of Patras;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece,","institution_ids":["https://openalex.org/I174878644"]},{"raw_affiliation_string":"University of Patras;","institution_ids":["https://openalex.org/I174878644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112165368","display_name":"Cathy Riemer","orcid":null},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cathy Riemer","raw_affiliation_strings":["The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA,","Pennsylvania State Univ#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA,","institution_ids":["https://openalex.org/I130769515"]},{"raw_affiliation_string":"Pennsylvania State Univ#TAB#","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071092709","display_name":"Webb Miller","orcid":null},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Webb Miller","raw_affiliation_strings":["The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA,","Pennsylvania State Univ#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA,","institution_ids":["https://openalex.org/I130769515"]},{"raw_affiliation_string":"Pennsylvania State Univ#TAB#","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039150569","display_name":"Giannis Tzimas","orcid":"https://orcid.org/0000-0002-4073-7256"},"institutions":[{"id":"https://openalex.org/I1319660883","display_name":"Technological Educational Institute of Western Greece","ror":"https://ror.org/01mymm084","country_code":"GR","type":"education","lineage":["https://openalex.org/I1319660883"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Giannis Tzimas","raw_affiliation_strings":["Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece,","Technological Educational Institute of Western Greece [Patra]"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece,","institution_ids":["https://openalex.org/I1319660883"]},{"raw_affiliation_string":"Technological Educational Institute of Western Greece [Patra]","institution_ids":["https://openalex.org/I1319660883"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018366836","display_name":"Henri Wajcman","orcid":null},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I3019246885","display_name":"Centre Hospitalier Universitaire Henri-Mondor","ror":"https://ror.org/04m61mj84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019246885"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Henri Wajcman","raw_affiliation_strings":["INSERM U955, CHU Henri Mondor, Creteil, France and","Service de Biochimie [Mondor]"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U955, CHU Henri Mondor, Creteil, France and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I3019246885"]},{"raw_affiliation_string":"Service de Biochimie [Mondor]","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014328256","display_name":"Ross C. Hardison","orcid":"https://orcid.org/0000-0003-4084-7516"},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ross C. Hardison","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA","The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA,","Biochemistry & Molecular Biology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA","institution_ids":["https://openalex.org/I130769515"]},{"raw_affiliation_string":"The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA,","institution_ids":["https://openalex.org/I130769515"]},{"raw_affiliation_string":"Biochemistry & Molecular Biology","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025869866","display_name":"George P. Patrinos","orcid":"https://orcid.org/0000-0002-0519-7776"},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"George P. Patrinos","raw_affiliation_strings":["Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece,","Dept of Pharmacy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece,","institution_ids":["https://openalex.org/I174878644"]},{"raw_affiliation_string":"Dept of Pharmacy","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":7,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5033108171"],"corresponding_institution_ids":["https://openalex.org/I130769515","https://openalex.org/I154526488","https://openalex.org/I174878644"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":18.587,"has_fulltext":true,"cited_by_count":471,"citation_normalized_percentile":{"value":0.99689218,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"42","issue":"D1","first_page":"D1063","last_page":"D1069"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9908999800682068,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9812999963760376,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.7070581316947937},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.6259605288505554},{"id":"https://openalex.org/keywords/hemoglobin-variants","display_name":"Hemoglobin variants","score":0.4689618647098541},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.4316536784172058},{"id":"https://openalex.org/keywords/locus","display_name":"Locus (genetics)","score":0.4253537058830261},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4212574362754822},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3755774199962616},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.3075501322746277},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.21329060196876526},{"id":"https://openalex.org/keywords/hemoglobin","display_name":"Hemoglobin","score":0.2012787163257599}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7070581316947937},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.6259605288505554},{"id":"https://openalex.org/C2776920385","wikidata":"https://www.wikidata.org/wiki/Q17022368","display_name":"Hemoglobin variants","level":3,"score":0.4689618647098541},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4316536784172058},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.4253537058830261},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4212574362754822},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3755774199962616},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3075501322746277},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.21329060196876526},{"id":"https://openalex.org/C2778917026","wikidata":"https://www.wikidata.org/wiki/Q43041","display_name":"Hemoglobin","level":2,"score":0.2012787163257599},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006454","descriptor_name":"Hemoglobins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006454","descriptor_name":"Hemoglobins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006454","descriptor_name":"Hemoglobins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":8,"locations":[{"id":"doi:10.1093/nar/gkt911","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkt911","pdf_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1063/16953711/gkt911.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:24137000","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24137000","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:www.um.edu.mt:123456789/99068","is_oa":true,"landing_page_url":"https://www.um.edu.mt/library/oar/handle/123456789/99068","pdf_url":null,"source":{"id":"https://openalex.org/S4306400782","display_name":"OAR@UM (University of Malta)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I197854408","host_organization_name":"University of Malta","host_organization_lineage":["https://openalex.org/I197854408"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:repub.eur.nl:59227","is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/59227","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 42(D1)","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.779.6845","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.779.6845","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/93/d4/gkt911.PMC3964999.pdf","raw_type":"text"},{"id":"pmh:oai:HAL:hal-02367993v1","is_oa":false,"landing_page_url":"https://hal.science/hal-02367993","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 2013, 42 (D1), pp.D1063-D1069. &#x27E8;10.1093/nar/gkt911&#x27E9;","raw_type":"Journal articles"},{"id":"pmh:oai:europepmc.org:2943135","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3964999","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:repub.eur.nl:59227","is_oa":true,"landing_page_url":"http://repub.eur.nl/pub/59227","pdf_url":null,"source":{"id":"https://openalex.org/S4306400997","display_name":"RePub (Erasmus University, Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research vol. 42 no. D1","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/nar/gkt911","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkt911","pdf_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1063/16953711/gkt911.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/10","score":0.6800000071525574,"display_name":"Reduced inequalities"}],"awards":[{"id":"https://openalex.org/G406367740","display_name":null,"funder_award_id":"026539","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G6401217413","display_name":null,"funder_award_id":"200754","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320309370","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10"},{"id":"https://openalex.org/F4320310419","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2004053059.pdf","grobid_xml":"https://content.openalex.org/works/W2004053059.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W1518571278","https://openalex.org/W1965783234","https://openalex.org/W1987408675","https://openalex.org/W2009551866","https://openalex.org/W2036088787","https://openalex.org/W2059600528","https://openalex.org/W2069623144","https://openalex.org/W2075239152","https://openalex.org/W2101882471","https://openalex.org/W2117243134","https://openalex.org/W2118621341","https://openalex.org/W2120827716","https://openalex.org/W2122484762","https://openalex.org/W2133673357","https://openalex.org/W2146734921","https://openalex.org/W2148853951","https://openalex.org/W2163348221","https://openalex.org/W2916083703","https://openalex.org/W4247460011"],"related_works":["https://openalex.org/W2050726229","https://openalex.org/W2189071442","https://openalex.org/W2330241370","https://openalex.org/W3211488260","https://openalex.org/W1868037109","https://openalex.org/W2045039608","https://openalex.org/W1028235294","https://openalex.org/W2162330746","https://openalex.org/W1498263855","https://openalex.org/W2954044368"],"abstract_inverted_index":{"HbVar":[0,66,89,92,119,143,177],"(http://globin.bx.psu.edu/hbvar)":[1],"is":[2],"one":[3],"of":[4,35,69,127,176,188],"the":[5,25,88,125,150,159,166,174,184,192],"oldest":[6],"and":[7,32,37,46,51,58,75,81,83,106,117,162,169,172,194],"most":[8],"appreciated":[9],"locus-specific":[10],"databases":[11],"launched":[12],"in":[13,87,153],"2001":[14],"by":[15,55],"a":[16],"multi-center":[17],"academic":[18],"effort":[19],"to":[20,29,64,124,131,148,191],"provide":[21],"timely":[22],"information":[23],"on":[24,137],"genomic":[26,133],"alterations":[27],"leading":[28],"hemoglobin":[30],"variants":[31,134],"all":[33],"types":[34],"thalassemia":[36],"hemoglobinopathies.":[38],"Database":[39],"records":[40],"include":[41],"extensive":[42],"phenotypic":[43],"descriptions,":[44],"biochemical":[45],"hematological":[47],"effects,":[48],"associated":[49],"pathology":[50],"ethnic":[52,77],"occurrence,":[53],"accompanied":[54],"mutation":[56],"frequencies":[57],"references.":[59],"Here,":[60],"we":[61],"report":[62],"updates":[63,156],">600":[65],"entries,":[67],"inclusion":[68],"population-specific":[70],"data":[71,115,120,144,170],"for":[72,79],"28":[73],"populations":[74],"27":[76],"groups":[78],"\u03b1-,":[80],"\u03b2-thalassemias":[82],"additional":[84],"querying":[85,116,163],"options":[86],"query":[90],"page.":[91],"content":[93,121,145,161],"was":[94],"also":[95],"inter-connected":[96],"with":[97,178],"two":[98,128],"other":[99,179],"established":[100],"genetic":[101,195],"databases,":[102,180],"namely":[103],"FINDbase":[104],"(http://www.findbase.org)":[105],"Leiden":[107],"Open-Access":[108],"Variation":[109],"database":[110,160,167,196],"(http://www.lovd.nl),":[111],"which":[112,181],"allows":[113],"comparative":[114],"analysis.":[118],"has":[122,146],"contributed":[123,147],"realization":[126],"collaborative":[129],"projects":[130],"identify":[132],"that":[135],"lie":[136],"different":[138],"globin":[139,193],"paralogs.":[140],"Most":[141],"importantly,":[142],"demonstrate":[149],"microattribution":[151],"concept":[152],"practice.":[154],"These":[155],"significantly":[157],"enriched":[158],"potential,":[164],"enhanced":[165],"profile":[168],"quality":[171],"broadened":[173],"inter-relation":[175],"should":[182],"increase":[183],"already":[185],"high":[186],"impact":[187],"this":[189],"resource":[190],"community.":[197]},"counts_by_year":[{"year":2026,"cited_by_count":13},{"year":2025,"cited_by_count":19},{"year":2024,"cited_by_count":31},{"year":2023,"cited_by_count":32},{"year":2022,"cited_by_count":38},{"year":2021,"cited_by_count":44},{"year":2020,"cited_by_count":56},{"year":2019,"cited_by_count":32},{"year":2018,"cited_by_count":36},{"year":2017,"cited_by_count":45},{"year":2016,"cited_by_count":51},{"year":2015,"cited_by_count":41},{"year":2014,"cited_by_count":22},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":4}],"updated_date":"2026-05-13T08:25:38.343686","created_date":"2025-10-10T00:00:00"}
