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Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari, Sara; Najmi, Laeya A; Bennett, Amanda J; Aukrust, Ingvild; Rundle, Jana K; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; van der Lugt, Timme; Hassanali, Neelam; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L.
Afiliación
  • Althari S; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK.
  • Najmi LA; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford,
  • Bennett AJ; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK.
  • Aukrust I; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
  • Rundle JK; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK.
  • Colclough K; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Molnes J; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
  • Kaci A; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Pediatrics and Adolescents, Haukeland University Hospital, 5021 Bergen, Norway.
  • Nawaz S; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK.
  • van der Lugt T; Hormone Laboratory, Haukeland University Hospital, 5021 Bergen, Norway.
  • Hassanali N; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK.
  • Mahajan A; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Molven A; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway; Department of Pathology, Haukeland University Hospital, 5021 Bergen, Norway.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • McCarthy MI; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK.
  • Bjørkhaug L; Department of Safety, Chemistry, and Biomedical Laboratory Sciences, Western Norway University of Applied Sciences, 5020 Bergen, Norway.
  • Njølstad PR; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Pediatrics and Adolescents, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address: pal.njolstad@uib.no.
  • Gloyn AL; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK; Division of Endocrinology, Department of
Am J Hum Genet ; 107(4): 670-682, 2020 10 01.
Article en En | MEDLINE | ID: mdl-32910913
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sistema de Registros / Predisposición Genética a la Enfermedad / Mutación Missense / Diabetes Mellitus Tipo 2 / Factor Nuclear 1-alfa del Hepatocito / Aprendizaje Automático no Supervisado Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sistema de Registros / Predisposición Genética a la Enfermedad / Mutación Missense / Diabetes Mellitus Tipo 2 / Factor Nuclear 1-alfa del Hepatocito / Aprendizaje Automático no Supervisado Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido