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Next-generation diagnostics and disease-gene discovery with the Exomiser.
Smedley, Damian; Jacobsen, Julius O B; Jäger, Marten; Köhler, Sebastian; Holtgrewe, Manuel; Schubach, Max; Siragusa, Enrico; Zemojtel, Tomasz; Buske, Orion J; Washington, Nicole L; Bone, William P; Haendel, Melissa A; Robinson, Peter N.
Affiliation
  • Smedley D; Skarnes Faculty Group, Wellcome Trust Sanger Institute, Hinxton, UK.
  • Jacobsen JO; Skarnes Faculty Group, Wellcome Trust Sanger Institute, Hinxton, UK.
  • Jäger M; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Köhler S; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Holtgrewe M; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Schubach M; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Siragusa E; Berlin Institute for Health, Berlin, Germany.
  • Zemojtel T; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Buske OJ; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Washington NL; Berlin Institute for Health, Berlin, Germany.
  • Bone WP; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Haendel MA; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Robinson PN; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Nat Protoc ; 10(12): 2004-15, 2015 Dec.
Article in En | MEDLINE | ID: mdl-26562621
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Exome Type of study: Diagnostic_studies / Guideline Limits: Humans Language: En Journal: Nat Protoc Year: 2015 Document type: Article Affiliation country: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Exome Type of study: Diagnostic_studies / Guideline Limits: Humans Language: En Journal: Nat Protoc Year: 2015 Document type: Article Affiliation country: United kingdom