SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.

In recent studies, exome sequencing has proven to be a successful screening tool for the identification of candidate genes causing rare genetic diseases. Although underlying targeted sequencing methods are well established, necessary data handling and focused, structured analysis still remain demand...

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Autores principales: Maria Fischer, Rene Snajder, Stephan Pabinger, Andreas Dander, Anna Schossig, Johannes Zschocke, Zlatko Trajanoski, Gernot Stocker
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
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Acceso en línea:https://doaj.org/article/77b7762cf71e439b853a654cf37f38eb
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