Document Type

Article

Publication Date

3-20-2018

JAX Source

Genome Biol 2018 Mar 20; 19(1):38

PMID

29559002

DOI

https://doi.org/10.1186/s13059-018-1404-6

Grant

CA034196, HG007497

Abstract

Comprehensive and accurate identification of structural variations (SVs) from next generation sequencing data remains a major challenge. We develop FusorSV, which uses a data mining approach to assess performance and merge callsets from an ensemble of SV-calling algorithms. It includes a fusion model built using analysis of 27 deep-coverage human genomes from the 1000 Genomes Project. We identify 843 novel SV calls that were not reported by the 1000 Genomes Project for these 27 samples. Experimental validation of a subset of these calls yields a validation rate of 86.7%. FusorSV is available at https://github.com/TheJacksonLaboratory/SVE . Genome Biol 2018 Mar 20; 19(1):38.

Share

COinS