Population-scale detection of non-reference sequence variants using colored de Bruijn Graphs.
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DOI: 10.1093/bioinformatics/btab749
Abstract: MOTIVATION With the increasing throughput of sequencing technologies, structural variant (SV) detection has become possible across tens of thousands of genomes. Non-reference sequence (NRS) variants have drawn less attention compared to other types of SVs… read more here.
Keywords: nrs variants; detection; reference sequence; using colored ... See more keywords