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A Randomized Iterative Approach for SV Discovery with SVelter

  • Xuefang ZhaoEmail author
Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1833)

Abstract

Genomic structural variants (SVs) are major sources of genome diversity, and numerous studies over the past few decades have shown the impact this class of genetic variation has had on human health and disease. In spite of the recent advances in sequencing technology and discovery methodology, there are still considerable amount of variants in the genome that are partially or completely misinterpreted. The computational tool introduced in this chapter, SVelter, is specifically designed to detect and resolve genomic SVs in all different formats, including the canonical as well as the complex.

Key words

Structural variation (SV) Next generation sequencing Randomized iterative process Copy number variant (CNV) 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Center for Genomic Medicine at Massachusetts General HospitalBostonUSA

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