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Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor, Alysha S; Barros, Dinis; Gobet, Nastassia; Schuepbach, Thierry; McAllister, Branduff; Aeschbach, Lorene; Randall, Emma L; Trofimenko, Evgeniya; Heuchan, Eleanor R; Barszcz, Paula; Ciosi, Marc; Morgan, Joanne; Hafford-Tear, Nathaniel J; Davidson, Alice E; Massey, Thomas H; Monckton, Darren G; Jones, Lesley; Network, Registry Investigators Of The European Huntington's Disease; Xenarios, Ioannis; Dion, Vincent.
Afiliação
  • Taylor AS; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
  • Barros D; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.
  • Gobet N; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.
  • Schuepbach T; Vital-IT Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
  • McAllister B; Newbiologix, Ch. De la corniche 6-8, 1066 Epalinges, Switzerland.
  • Aeschbach L; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
  • Randall EL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Trofimenko E; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.
  • Heuchan ER; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
  • Barszcz P; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.
  • Ciosi M; Sorbonne Université, École normale supérieure, PSL University, CNRS, Laboratoire des biomolécules, LBM, 75005 Paris, France.
  • Morgan J; UK Dementia Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
  • Hafford-Tear NJ; Centre for Integrative Genomics, University of Lausanne, Bâtiment Génopode, 1015 Lausanne, Switzerland.
  • Davidson AE; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, Davidson Building, University of Glasgow, Glasgow, G12 8QQ, UK.
  • Massey TH; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
  • Monckton DG; UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
  • Jones L; UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
  • Network RIOTEHD; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
  • Xenarios I; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, Davidson Building, University of Glasgow, Glasgow, G12 8QQ, UK.
  • Dion V; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
NAR Genom Bioinform ; 4(4): lqac089, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36478959

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: NAR Genom Bioinform Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: NAR Genom Bioinform Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido