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Detection of long repeat expansions from PCR-free whole-genome sequence data.
Dolzhenko, Egor; van Vugt, Joke J F A; Shaw, Richard J; Bekritsky, Mitchell A; van Blitterswijk, Marka; Narzisi, Giuseppe; Ajay, Subramanian S; Rajan, Vani; Lajoie, Bryan R; Johnson, Nathan H; Kingsbury, Zoya; Humphray, Sean J; Schellevis, Raymond D; Brands, William J; Baker, Matt; Rademakers, Rosa; Kooyman, Maarten; Tazelaar, Gijs H P; van Es, Michael A; McLaughlin, Russell; Sproviero, William; Shatunov, Aleksey; Jones, Ashley; Al Khleifat, Ahmad; Pittman, Alan; Morgan, Sarah; Hardiman, Orla; Al-Chalabi, Ammar; Shaw, Chris; Smith, Bradley; Neo, Edmund J; Morrison, Karen; Shaw, Pamela J; Reeves, Catherine; Winterkorn, Lara; Wexler, Nancy S; Housman, David E; Ng, Christopher W; Li, Alina L; Taft, Ryan J; van den Berg, Leonard H; Bentley, David R; Veldink, Jan H; Eberle, Michael A.
Afiliação
  • Dolzhenko E; Illumina Incorporated, San Diego, California 92122, USA.
  • van Vugt JJFA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Shaw RJ; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom.
  • Bekritsky MA; Repositive Limited, Future Business Centre, Cambridge CB4 2HY, United Kingdom.
  • van Blitterswijk M; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom.
  • Narzisi G; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA.
  • Ajay SS; New York Genome Center, New York, New York 10013, USA.
  • Rajan V; Illumina Incorporated, San Diego, California 92122, USA.
  • Lajoie BR; Illumina Incorporated, San Diego, California 92122, USA.
  • Johnson NH; Illumina Incorporated, San Diego, California 92122, USA.
  • Kingsbury Z; Illumina Incorporated, San Diego, California 92122, USA.
  • Humphray SJ; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom.
  • Schellevis RD; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom.
  • Brands WJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Baker M; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA.
  • Kooyman M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA.
  • Tazelaar GHP; SURFsara, 1098 XG Amsterdam, The Netherlands.
  • van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • McLaughlin R; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Sproviero W; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin 2, Republic of Ireland.
  • Shatunov A; Department of Neurology, Beaumont Hospital, Dublin 9, Republic of Ireland.
  • Jones A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Al Khleifat A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Pittman A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Morgan S; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Hardiman O; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
  • Al-Chalabi A; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
  • Shaw C; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin 2, Republic of Ireland.
  • Smith B; Department of Neurology, Beaumont Hospital, Dublin 9, Republic of Ireland.
  • Neo EJ; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Morrison K; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Shaw PJ; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Reeves C; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom.
  • Winterkorn L; University of Southampton, Southampton SO17 1BJ, United Kingdom.
  • Wexler NS; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, United Kingdom.
  • Housman DE; New York Genome Center, New York, New York 10013, USA.
  • Ng CW; Columbia University, New York, New York 10032, USA.
  • Li AL; Hereditary Disease Foundation, New York, New York 10032, USA.
  • van den Berg LH; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
  • Bentley DR; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
  • Veldink JH; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
  • Eberle MA; Illumina Incorporated, San Diego, California 92122, USA.
Genome Res ; 27(11): 1895-1903, 2017 11.
Article em En | MEDLINE | ID: mdl-28887402
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Expansão das Repetições de DNA / Sequenciamento Completo do Genoma / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Expansão das Repetições de DNA / Sequenciamento Completo do Genoma / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos