Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Less than half of patients with suspected genetic disease receive a molecular diagnosis. We have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical data into an effective diagnostic workflow. We used variants in the 2741 established Mendelian disease genes [the disea...

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Detalhes bibliográficos
Publicado no:Sci Transl Med
Main Authors: Zemojtel, Tomasz, Köhler, Sebastian, Mackenroth, Luisa, Jäger, Marten, Hecht, Jochen, Krawitz, Peter, Graul-Neumann, Luitgard, Doelken, Sandra, Ehmke, Nadja, Spielmann, Malte, Øien, Nancy Christine, Schweiger, Michal R., Krüger, Ulrike, Frommer, Götz, Fischer, Björn, Kornak, Uwe, Flöttmann, Ricarda, Ardeshirdavani, Amin, Moreau, Yves, Lewis, Suzanna E., Haendel, Melissa, Smedley, Damian, Horn, Denise, Mundlos, Stefan, Robinson, Peter N.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4512639/
https://ncbi.nlm.nih.gov/pubmed/25186178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3009262
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