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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Dolzhenko, Egor; Deshpande, Viraj; Schlesinger, Felix; Krusche, Peter; Petrovski, Roman; Chen, Sai; Emig-Agius, Dorothea; Gross, Andrew; Narzisi, Giuseppe; Bowman, Brett; Scheffler, Konrad; van Vugt, Joke J F A; French, Courtney; Sanchis-Juan, Alba; Ibáñez, Kristina; Tucci, Arianna; Lajoie, Bryan R; Veldink, Jan H; Raymond, F Lucy; Taft, Ryan J; Bentley, David R; Eberle, Michael A.
Afiliação
  • Dolzhenko E; Illumina Inc., San Diego, CA 92122, USA.
  • Deshpande V; Illumina Inc., San Diego, CA 92122, USA.
  • Schlesinger F; Illumina Inc., San Diego, CA 92122, USA.
  • Krusche P; Illumina Cambridge Ltd, Illumina Centre, 19 Granta Park, Great Abington, Cambridge CB21 6DF, UK.
  • Petrovski R; Illumina Cambridge Ltd, Illumina Centre, 19 Granta Park, Great Abington, Cambridge CB21 6DF, UK.
  • Chen S; Illumina Inc., San Diego, CA 92122, USA.
  • Emig-Agius D; Illumina Inc., San Diego, CA 92122, USA.
  • Gross A; Illumina Inc., San Diego, CA 92122, USA.
  • Narzisi G; Computational Biology, New York Genome Center, New York, NY 10013, USA.
  • Bowman B; Illumina Inc., San Diego, CA 92122, USA.
  • Scheffler K; Illumina Inc., San Diego, CA 92122, USA.
  • van Vugt JJFA; UMC Utrecht Brain Center, Utrecht University, 3508 AB Utrecht, The Netherlands.
  • French C; Department of Medical Genetics, NHS Blood and Transplant Centre, Cambridge, CB2 0PT, UK.
  • Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, CB2 0PT, UK.
  • Ibáñez K; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Tucci A; Genomics England, Queen Mary University London, London EC1M 6BQ, UK.
  • Lajoie BR; Genomics England, Queen Mary University London, London EC1M 6BQ, UK.
  • Veldink JH; Illumina Inc., San Diego, CA 92122, USA.
  • Raymond FL; UMC Utrecht Brain Center, Utrecht University, 3508 AB Utrecht, The Netherlands.
  • Taft RJ; Department of Medical Genetics, NHS Blood and Transplant Centre, Cambridge, CB2 0PT, UK.
  • Bentley DR; Illumina Inc., San Diego, CA 92122, USA.
  • Eberle MA; Illumina Cambridge Ltd, Illumina Centre, 19 Granta Park, Great Abington, Cambridge CB21 6DF, UK.
Bioinformatics ; 35(22): 4754-4756, 2019 11 01.
Article em En | MEDLINE | ID: mdl-31134279

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Repetições de Microssatélites Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Repetições de Microssatélites Idioma: En Ano de publicação: 2019 Tipo de documento: Article