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VarFish: comprehensive DNA variant analysis for diagnostics and research.
Holtgrewe, Manuel; Stolpe, Oliver; Nieminen, Mikko; Mundlos, Stefan; Knaus, Alexej; Kornak, Uwe; Seelow, Dominik; Segebrecht, Lara; Spielmann, Malte; Fischer-Zirnsak, Björn; Boschann, Felix; Scholl, Ute; Ehmke, Nadja; Beule, Dieter.
Afiliação
  • Holtgrewe M; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.
  • Stolpe O; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 10117, Germany.
  • Nieminen M; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.
  • Mundlos S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 10117, Germany.
  • Knaus A; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.
  • Kornak U; Max Delbrück Center for Molecular Medicine, Berlin 13125, Germany.
  • Seelow D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
  • Segebrecht L; Development and Disease Group, Max Planck Institute for Medical Genetics, Berlin 14195, Germany.
  • Spielmann M; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn 53127, Germany.
  • Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
  • Boschann F; Development and Disease Group, Max Planck Institute for Medical Genetics, Berlin 14195, Germany.
  • Scholl U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
  • Ehmke N; Berlin Institute of Health (BIH), Anna-Louisa-Karsch-Str. 2, 10178 Berlin, Germany.
  • Beule D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
Nucleic Acids Res ; 48(W1): W162-W169, 2020 07 02.
Article em En | MEDLINE | ID: mdl-32338743

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Software / Doenças Raras Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: Nucleic Acids Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Software / Doenças Raras Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: Nucleic Acids Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha