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Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
Yauy, Kevin; de Leeuw, Nicole; Yntema, Helger G; Pfundt, Rolph; Gilissen, Christian.
Afiliação
  • Yauy K; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université de Montpellier, Centre de référence anomalies du développement SORO, INSERM U1183, Montpellier, France.
  • de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pfundt R; Donders Institute for Brain, Cognition and Behaviour, Radboud University 6525 HR, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Genet Med ; 22(4): 803-808, 2020 04.
Article em En | MEDLINE | ID: mdl-31767986
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dissomia Uniparental / Exoma Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dissomia Uniparental / Exoma Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França