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Assessing structural variation in a personal genome—towards a human reference diploid genome
2015
BMC Genomics
Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and methods are available to detect these structural variants (SVs), they remain less characterized than smaller variants because of SV diversity, complexity, and size. These challenges are exacerbated by the experimental and computational demands of SV analysis. Here, we characterize the SV content of a personal genome with Parliament, a
doi:10.1186/s12864-015-1479-3
pmid:25886820
pmcid:PMC4490614
fatcat:2jy2bprzw5bcja6ah23bkirooy