Joseph Leone

Joseph Leone

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Joseph Leone

The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA

Research Focus & Metrics

Academic Career Length

9Years (2018-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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20 March 2018 in Genome Biology
Verified
Journal Article
Open access
PDF file
TBTimothy Becker
Timothy Becker
WLWan-Ping Lee
Wan-Ping Lee
JLJoseph Leone
Joseph Leone
QZQihui Zhu
Qihui Zhu
CZChengsheng Zhang
Chengsheng Zhang
AMAnkit Malhotra
Ankit Malhotra
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 .