Article
VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.
Bioinformatics (Oxford, England) - 1 Sept 2012
Habegger Lukas, Balasubramanian Suganthi, Chen David Z, Khurana Ekta, Sboner Andrea, Harmanci Arif, Rozowsky Joel, Clarke Declan, Snyder Michael, Gerstein Mark
Abstract excerpt
UNLABELLED: The functional annotation of variants obtained through sequencing projects is generally assumed to be a simple intersection of genomic coordinates with genomic features. However, complexities arise for several reasons, including the differential effects of a variant on alternatively spliced transcripts, as well as the difficulty in assessing the impact of small insertions/deletions and large...
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