Article
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Science translational medicine - 3 Sept 2014
Zemojtel Tomasz, Köhler Sebastian, Mackenroth Luisa, Jäger Marten, Hecht Jochen, Krawitz Peter, Graul-Neumann Luitgard, Doelken Sandra, Ehmke Nadja, Spielmann Malte, Oien 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
Abstract excerpt
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 disease-associated genome (DAG)] to develop a targeted enrichment DAG panel (7.1 Mb), which achieves a coverage of...
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