{"id":"https://openalex.org/W2019380425","doi":"https://doi.org/10.1371/journal.pone.0038050","title":"Exome Sequencing and Genetic Testing for MODY","display_name":"Exome Sequencing and Genetic Testing for MODY","publication_year":2012,"publication_date":"2012-05-25","ids":{"openalex":"https://openalex.org/W2019380425","doi":"https://doi.org/10.1371/journal.pone.0038050","mag":"2019380425","pmid":"https://pubmed.ncbi.nlm.nih.gov/22662265","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3360646"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0038050","doi":"https://doi.org/10.1371/journal.pone.0038050","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0038050","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0038050&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0038050&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021148250","display_name":"Stefan Johansson","orcid":"https://orcid.org/0000-0002-2298-7008","observed_orcids":["https://orcid.org/0000-0002-2298-7008"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Stefan Johansson","raw_affiliation_strings":["Department of Clinical Medicine, University of Bergen, Bergen, Norway","Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway","Department of Biomedicine, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Medicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Department of Biomedicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054385977","display_name":"Henrik Underthun Irgens","orcid":"https://orcid.org/0009-0003-5602-5223","observed_orcids":["https://orcid.org/0009-0003-5602-5223"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Henrik Irgens","raw_affiliation_strings":["Department of Clinical Medicine, University of Bergen, Bergen, Norway","Department of Pediatrics, Haukeland University Hospital, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Medicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Department of Pediatrics, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039875549","display_name":"Kishan Chudasama","orcid":"https://orcid.org/0000-0003-0929-0326","observed_orcids":["https://orcid.org/0000-0003-0929-0326"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Kishan K. Chudasama","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway","Department of Clinical Medicine, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Department of Clinical Medicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065228244","display_name":"Janne Molnes","orcid":"https://orcid.org/0000-0002-9146-7874","observed_orcids":["https://orcid.org/0000-0002-9146-7874"]},"institutions":[{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Janne Molnes","raw_affiliation_strings":["Department of Clinical Medicine, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Medicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053646618","display_name":"Jan A Aerts","orcid":"https://orcid.org/0000-0002-6416-2717","observed_orcids":["https://orcid.org/0000-0002-6416-2717"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE","GB"],"is_corresponding":false,"raw_author_name":"Jan Aerts","raw_affiliation_strings":["Faculty of Engineering \u2013 ESAT/SCD, Leuven University, Leuven, Belgium","Wellcome Trust Sanger Institute, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Engineering \u2013 ESAT/SCD, Leuven University, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]},{"raw_affiliation_string":"Wellcome Trust Sanger Institute, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109223946","display_name":"Francisco S. Roque","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210102807","display_name":"Uni Research (Norway)","ror":"https://ror.org/016tr2j79","country_code":"NO","type":"company","lineage":["https://openalex.org/I4210102807","https://openalex.org/I4210107808"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Francisco S. Roque","raw_affiliation_strings":["Computational Biology Unit, Uni Computing, Uni Research, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Biology Unit, Uni Computing, Uni Research, Bergen, Norway","institution_ids":["https://openalex.org/I4210102807"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012964587","display_name":"Inge Jonassen","orcid":"https://orcid.org/0000-0003-4110-0748","observed_orcids":["https://orcid.org/0000-0003-4110-0748"]},"institutions":[{"id":"https://openalex.org/I4210102807","display_name":"Uni Research (Norway)","ror":"https://ror.org/016tr2j79","country_code":"NO","type":"company","lineage":["https://openalex.org/I4210102807","https://openalex.org/I4210107808"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Inge Jonassen","raw_affiliation_strings":["Computational Biology Unit, Uni Computing, Uni Research, Bergen, Norway","Department of Informatics, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Biology Unit, Uni Computing, Uni Research, Bergen, Norway","institution_ids":["https://openalex.org/I4210102807"]},{"raw_affiliation_string":"Department of Informatics, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034381224","display_name":"Shawn Levy","orcid":"https://orcid.org/0000-0002-1369-5740","observed_orcids":["https://orcid.org/0000-0002-1369-5740"]},"institutions":[{"id":"https://openalex.org/I4210145894","display_name":"HudsonAlpha Institute for Biotechnology","ror":"https://ror.org/04nz0wq19","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210145894"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shawn Levy","raw_affiliation_strings":["HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America","institution_ids":["https://openalex.org/I4210145894"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111931134","display_name":"Kari Lima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800192669","display_name":"Akershus University Hospital","ror":"https://ror.org/0331wat71","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800192669"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Kari Lima","raw_affiliation_strings":["Division of Medicine, Department of Endocrinology, Departments of Medicine and Human Genetics, Akershus University Hospital, L\u00f8renskog, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medicine, Department of Endocrinology, Departments of Medicine and Human Genetics, Akershus University Hospital, L\u00f8renskog, Norway","institution_ids":["https://openalex.org/I2800192669"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114004657","display_name":"Per Morten Knappskog","orcid":"https://orcid.org/0000-0002-8277-4530","observed_orcids":["https://orcid.org/0000-0002-8277-4530"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Per M. Knappskog","raw_affiliation_strings":["Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway","Department of Clinical Medicine, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Department of Clinical Medicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103544018","display_name":"Graeme I. Bell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Graeme I. Bell","raw_affiliation_strings":["Departments of Medicine and Human Genetics, The University of Chicago, Chicago, Illinois, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Human Genetics, The University of Chicago, Chicago, Illinois, United States of America","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073433861","display_name":"Anders Molven","orcid":"https://orcid.org/0000-0003-1847-3079","observed_orcids":["https://orcid.org/0000-0003-1847-3079"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Anders Molven","raw_affiliation_strings":["Department of Pathology, Haukeland University Hospital, Bergen, Norway","Gade Institute, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Gade Institute, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012146929","display_name":"P\u00e5l R. Nj\u00f8lstad","orcid":"https://orcid.org/0000-0003-0304-6728","observed_orcids":["https://orcid.org/0000-0003-0304-6728"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":true,"raw_author_name":"P\u00e5l R. Nj\u00f8lstad","raw_affiliation_strings":["Department of Clinical Medicine, University of Bergen, Bergen, Norway","Department of Pediatrics, Haukeland University Hospital, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Medicine, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Department of Pediatrics, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5012146929"],"corresponding_institution_ids":["https://openalex.org/I2800740805","https://openalex.org/I4432739"],"apc_list":{"value":2382,"currency":"USD","value_usd":2382},"apc_paid":{"value":2382,"currency":"USD","value_usd":2382},"fwci":6.4542,"has_fulltext":true,"cited_by_count":110,"citation_normalized_percentile":{"value":0.97618481,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":100},"biblio":{"volume":"7","issue":"5","first_page":"e38050","last_page":"e38050"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9804999828338623,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9804999828338623,"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/T11171","display_name":"Diabetes and associated disorders","score":0.01549999974668026,"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/T10839","display_name":"Pancreatic function and diabetes","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/maturity-onset-diabetes-of-the-young","display_name":"maturity-onset diabetes of the young","score":0.8830000162124634},{"id":"https://openalex.org/keywords/monogenic-diabetes","display_name":"monogenic diabetes","score":0.9120000004768372},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.9309999942779541},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.8009999990463257},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.5120000243186951},{"id":"https://openalex.org/keywords/hnf4a","display_name":"HNF4\u03b1","score":0.7120000123977661},{"id":"https://openalex.org/keywords/abcc8","display_name":"ABCC8","score":0.9610000252723694},{"id":"https://openalex.org/keywords/ppargamma","display_name":"PPAR\u03b3","score":0.9900000095367432},{"id":"https://openalex.org/keywords/wfs1","display_name":"WFS1","score":0.6159999966621399},{"id":"https://openalex.org/keywords/glis3","display_name":"GLIS3","score":0.7710000276565552},{"id":"https://openalex.org/keywords/madd","display_name":"MADD","score":0.7590000033378601},{"id":"https://openalex.org/keywords/notch2","display_name":"Notch2","score":0.9430000185966492},{"id":"https://openalex.org/keywords/arap1","display_name":"ARAP1","score":0.875},{"id":"https://openalex.org/keywords/sequencing-depth","display_name":"sequencing depth","score":0.5109999775886536}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.9135047197341919},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7308794856071472},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.7083163857460022},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6876848936080933},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5341436266899109},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5215365886688232},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5214276313781738},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5187349915504456},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.294103741645813},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.21195662021636963}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":13,"locations":[{"id":"doi:10.1371/journal.pone.0038050","doi":"https://doi.org/10.1371/journal.pone.0038050","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0038050","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0038050&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2372975","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3360646","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,"listed_in":[],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3360646","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3360646","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS One","raw_type":"Text"},{"id":"pmid:22662265","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22662265","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,"listed_in":[],"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":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.779.7502","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.779.7502","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/5a/46/pone.0038050.PMC3360646.pdf","raw_type":"text"},{"id":"pmh:oai:uchicago.tind.io:10392","doi":null,"is_oa":true,"landing_page_url":"http://knowledge.uchicago.edu/record/10392","pdf_url":null,"source":{"id":"https://openalex.org/S4306402460","display_name":"Knowledge@UChicago (University of Chicago)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I40347166","host_organization_name":"University of Chicago","host_organization_lineage":["https://openalex.org/I40347166"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://knowledge.uchicago.edu/record/10392","raw_type":"Text"},{"id":"pmh:oai:bora.uib.no:1956/6485","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1956/6485","pdf_url":null,"source":{"id":"https://openalex.org/S7407064446","display_name":"NORA - Norwegian Open Research Archives","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:dc866974a1f040918ed90d64ab6093ca","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/dc866974a1f040918ed90d64ab6093ca","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, Vol 7, Iss 5, p e38050 (2012)","raw_type":"article"},{"id":"pmh:oai:documentserver.uhasselt.be:1942/33865","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1942/33865","pdf_url":null,"source":{"id":"https://openalex.org/S4306401926","display_name":"Document Server@UHasselt (UHasselt)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I878454856","host_organization_name":"Hasselt University","host_organization_lineage":["https://openalex.org/I878454856"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:figshare.com:article/124585","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Exome_Sequencing_and_Genetic_Testing_for_MODY/124585","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"doi:10.6082/bqrv0-42e64","doi":"https://doi.org/10.6082/bqrv0-42e64","is_oa":true,"landing_page_url":"https://doi.org/10.6082/bqrv0-42e64","pdf_url":null,"source":{"id":"https://openalex.org/S7407053018","display_name":"University of Chicago","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.6082/dtae7-49x32","doi":"https://doi.org/10.6082/dtae7-49x32","is_oa":true,"landing_page_url":"https://doi.org/10.6082/dtae7-49x32","pdf_url":null,"source":{"id":"https://openalex.org/S7407053018","display_name":"University of Chicago","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"mag:2528674009","doi":null,"is_oa":true,"landing_page_url":"https://lirias.kuleuven.be/handle/123456789/346890","pdf_url":null,"source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE","raw_type":null}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0038050","doi":"https://doi.org/10.1371/journal.pone.0038050","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0038050","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0038050&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320322496","display_name":"Helse Vest","ror":"https://ror.org/001212e83"},{"id":"https://openalex.org/F4320323078","display_name":"Universitetet i Bergen","ror":"https://ror.org/03zga2b32"},{"id":"https://openalex.org/F4320323299","display_name":"Norges Forskningsr\u00e5d","ror":"https://ror.org/00epmv149"},{"id":"https://openalex.org/F4320326507","display_name":"Haukeland\u00a0Universitetssjukehus","ror":"https://ror.org/03np4e098"},{"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/W2019380425.pdf","grobid_xml":"https://content.openalex.org/works/W2019380425.grobid-xml"},"referenced_works_count":53,"referenced_works":["https://openalex.org/W1488559297","https://openalex.org/W1575472715","https://openalex.org/W1967093093","https://openalex.org/W1975535652","https://openalex.org/W1978215768","https://openalex.org/W1984068087","https://openalex.org/W1990584688","https://openalex.org/W1993991632","https://openalex.org/W1996504780","https://openalex.org/W1996549380","https://openalex.org/W2004299376","https://openalex.org/W2019020805","https://openalex.org/W2020229206","https://openalex.org/W2025482811","https://openalex.org/W2026740713","https://openalex.org/W2030657919","https://openalex.org/W2031582662","https://openalex.org/W2036210716","https://openalex.org/W2040224852","https://openalex.org/W2048478912","https://openalex.org/W2050455735","https://openalex.org/W2059145105","https://openalex.org/W2062249625","https://openalex.org/W2070923918","https://openalex.org/W2082462360","https://openalex.org/W2099057503","https://openalex.org/W2100526574","https://openalex.org/W2108134904","https://openalex.org/W2108234281","https://openalex.org/W2112391462","https://openalex.org/W2113745162","https://openalex.org/W2115457593","https://openalex.org/W2119180969","https://openalex.org/W2126916229","https://openalex.org/W2132686752","https://openalex.org/W2140331829","https://openalex.org/W2141642891","https://openalex.org/W2145016696","https://openalex.org/W2145035860","https://openalex.org/W2146975462","https://openalex.org/W2147837025","https://openalex.org/W2149028666","https://openalex.org/W2151600164","https://openalex.org/W2155078339","https://openalex.org/W2155445544","https://openalex.org/W2159422401","https://openalex.org/W2163796200","https://openalex.org/W2171750333","https://openalex.org/W2171777347","https://openalex.org/W2885727518","https://openalex.org/W2914278830","https://openalex.org/W3212769578","https://openalex.org/W6887939749"],"related_works":["https://openalex.org/W3156912588","https://openalex.org/W2808877145","https://openalex.org/W1588955249","https://openalex.org/W4389727474","https://openalex.org/W2981314373","https://openalex.org/W3035158339","https://openalex.org/W2534253761","https://openalex.org/W3172974046","https://openalex.org/W3042213016","https://openalex.org/W7038236358"],"abstract_inverted_index":{"CONTEXT:":[0],"Genetic":[1],"testing":[2],"for":[3,8,48,90],"monogenic":[4],"diabetes":[5,219],"is":[6,32],"important":[7],"patient":[9],"care.":[10],"Given":[11],"the":[12,38,43,93,138,171,195,205,230,278],"extensive":[13],"genetic":[14,188],"and":[15,98,105,109,142,155,179,236],"clinical":[16],"heterogeneity":[17],"of":[18,37,45,52,62,121,137,165,170,194,200,259,281],"diabetes,":[19],"exome":[20,46,74,141,183,224,253,282],"sequencing":[21,47,61,79,184,225,254,283],"might":[22],"provide":[23],"additional":[24],"diagnostic":[25,60],"potential":[26,280],"when":[27,261],"standard":[28],"Sanger":[29,88,267],"sequencing-based":[30],"diagnostics":[31,258],"inconclusive.":[33],"OBJECTIVE:":[34],"The":[35],"aim":[36],"study":[39],"was":[40],"to":[41,186,241,266],"examine":[42],"performance":[44],"a":[49,118,162,187,264],"molecular":[50,257],"diagnosis":[51,189],"MODY":[53,260],"in":[54,80,92,117,125,160,190,204,216,229,246],"patients":[55,82],"who":[56],"have":[57],"undergone":[58],"conventional":[59],"candidate":[63,167],"genes":[64,123,220,231],"with":[65,83],"negative":[66],"results.":[67],"RESEARCH":[68],"DESIGN":[69],"AND":[70],"METHODS:":[71],"We":[72,101,150],"performed":[73,110],"enrichment":[75],"followed":[76],"by":[77],"high-throughput":[78],"nine":[81,196],"suspected":[84],"MODY.":[85],"They":[86],"were":[87,173,208],"sequencing-negative":[89],"mutations":[91],"HNF1A,":[94],"HNF4A,":[95],"GCK,":[96],"HNF1B":[97],"INS":[99],"genes.":[100,168],"excluded":[102],"common,":[103],"non-coding":[104],"synonymous":[106],"gene":[107],"variants,":[108],"in-depth":[111],"analysis":[112],"on":[113],"filtered":[114],"sequence":[115],"variants":[116,147,157,172,228],"pre-defined":[119],"set":[120],"111":[122,166],"implicated":[124],"glucose":[126],"metabolism.":[127],"RESULTS:":[128],"On":[129],"average,":[130],"we":[131,211],"obtained":[132],"45":[133],"X":[134],"median":[135],"coverage":[136,215],"entire":[139],"targeted":[140],"found":[143,213],"199":[144],"rare":[145,153],"coding":[146],"per":[148,158],"individual.":[149],"identified":[151],"0-4":[152],"non-synonymous":[154],"nonsense":[156],"individual":[159],"our":[161,222],"priori":[163],"list":[164],"Three":[169],"considered":[174],"pathogenic":[175],"(in":[176],"ABCC8,":[177],"HNF4A":[178],"PPARG,":[180],"respectively),":[181],"thus":[182],"led":[185],"at":[191],"least":[192],"three":[193],"patients.":[197],"Approximately":[198],"91%":[199],"known":[201],"heterozygous":[202],"SNPs":[203],"target":[206],"exomes":[207],"detected,":[209],"but":[210],"also":[212],"low":[214],"some":[217],"key":[218],"using":[221],"current":[223],"approach.":[226],"Novel":[227],"ARAP1,":[232],"GLIS3,":[233],"MADD,":[234],"NOTCH2":[235],"WFS1":[237],"need":[238],"further":[239],"investigation":[240],"reveal":[242],"their":[243],"possible":[244],"role":[245],"diabetes.":[247],"CONCLUSION:":[248],"Our":[249],"results":[250],"demonstrate":[251],"that":[252],"can":[255,284],"improve":[256],"used":[262],"as":[263],"complement":[265],"sequencing.":[268],"However,":[269],"improvements":[270],"will":[271],"be":[272,285],"needed,":[273],"especially":[274],"concerning":[275],"coverage,":[276],"before":[277],"full":[279],"realized.":[286]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":18},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":10},{"year":2018,"cited_by_count":11},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":14},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
