RNA-Seq allows the identification of intronic causative mutations missed by the usual filtering of Whole Exome Sequencing

April 15, 2015 Leave a comment 8,485 Views

(ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited mutations or chromosomal rearrangements as well as double or multiple hits. A team led ...

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RNA-Seq allows the identification of intronic causative mutations missed by the usual filtering of Whole Exome Sequencing

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