SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes
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DOI: 10.1093/bioinformatics/btx813
Abstract: Motivation: Structural variation (SV) detection from short‐read whole genome sequencing is error prone, presenting significant challenges for population or family‐based studies of disease. Results: Here, we describe SV2, a machine‐learning algorithm for genotyping deletions and… read more here.
Keywords: detection; variation; variation genotyping; sv2 accurate ... See more keywords