Ontology highlight
ABSTRACT:
SUBMITTER: Lesack K
PROVIDER: S-EPMC9803319 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Lesack Kyle K Mariene Grace M GM Andersen Erik C EC Wasmuth James D JD
PloS one 20221230 12
The accurate characterization of structural variation is crucial for our understanding of how large chromosomal alterations affect phenotypic differences and contribute to genome evolution. Whole-genome sequencing is a popular approach for identifying structural variants, but the accuracy of popular tools remains unclear due to the limitations of existing benchmarks. Moreover, the performance of these tools for predicting variants in non-human genomes is less certain, as most tools were develope ...[more]