PerSVade: personalized structural variation detection in your species of interest
Document typeConference report
PublisherBarcelona Supercomputing Center
Rights accessOpen Access
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Structural variants (SV) such as translocations, inversions, deletions, and other genomic rearrangements can contribute significantly to genetic and phenotypic variability across many species. The role of SV has been traditionally overlooked due to the technical limitations of SV detection and interpretation from short-read sequencing datasets. Most available algorithms yield low recall when tested on humans, but few studies have investigated the performance in nonhuman genomes . Similarly, there are no specific indications about what parameters should be used for SV calling for most species. It is unclear whether the accuracy of each algorithm and running parameters validated on model species work equivalently for other species.
CitationSchikora-Tamarit, M.À.; Gabaldón, T. PerSVade: personalized structural variation detection in your species of interest. A: . Barcelona Supercomputing Center, 2021, p. 67.