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Oxford University Press (OUP), Bioinformatics, 11(30), p. 1514-1521

DOI: 10.1093/bioinformatics/btu054

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

Journal article published in 2014 by Eitan Halper-Stromberg, Jared Steranka, Kathleen H. Burns, Sarven Sabunciyan, Rafael A. Irizarry
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.