A software pipeline for the discovery of variations in exome sequencing projects
نویسنده
چکیده
Motivations The recent advances in the technologies and strategies for DNA sequencing have dramatically facilitated the identification of novel human genes associated with rare and common diseases [1]. However novel methods are needed to identify high-quality variations among all the ones identified in a single experiment. The most successful approach to identify disease-causing mutations consists in using exome arrays [2] that allow the sequencing of only the coding regions in a genome. We developed a novel pipeline to identify high quality variations in the data produced by an exome sequencing experiment using the new 454 Roche sequencer [3].
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