Visualization and probability-based scoring of structural variants within repetitive sequences.

ABSTRACT:

Motivation

Repetitive sequences account for approximately half of the human genome. Accurately ascertaining sequences in these regions with next generation sequencers is challenging, and requires a different set of analytical techniques than for reads originating from unique sequences. Complicating the matter are repetitive regions subject to programmed rearrangements, as is the case with the antigen-binding domains in the Immunoglobulin (Ig) and T-cell receptor (TCR) loci.

Results

We developed a probability-based score and visualization method to aid in distinguishing true structural variants from alignment artifacts. We demonstrate the usefulness of this method in its ability to separate real structural variants from false positives generated with existing upstream analysi

SUBMITTER: Halper-Stromberg E 

PROVIDER: S-EPMC4029030 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature