VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.

ABSTRACT:

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 structural variants. Taking these factors into consideration, we developed the Variant Annotation Tool (VAT) to functionally annotate variants from multiple personal genomes at the transcript level as well as obtain summary statistics across genes and individuals. VAT also allows visualization of the effects of different variants, integrates allele frequencies and genotype data from

SUBMITTER: Habegger L 

PROVIDER: S-EPMC3426844 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature