SVCROWS: A User-Defined Tool for Interpreting Significant Structural Variants in Heterogeneous Datasets.

ABSTRACT: Structural variants (SVs) are abundant across all life, and have major impacts on the genome and transcriptome. However, it is difficult to appreciate the individual significance of SVs when they are heterogeneously distributed across a genomic neighborhood. Further, low-input sequencing technologies or sequencing of many individuals across a population introduce variance that complicates SV counting and association studies. Tools exist to simplify SV datasets, but these SV mergers begin to fail on large or highly variable datasets. To address this issue, we introduce a new SV merger called SVCROWS (Structural Variation Consensus with Reciprocal Overlap and Weighted Sizes). This option-rich R package merges and summarizes SV regions using a size-weighted reciprocal overlap framework, effec

SUBMITTER: Brown N 

PROVIDER: S-EPMC12140265 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature