SVhound: detection of regions that harbor yet undetected structural variation.

ABSTRACT:

Background

Recent population studies are ever growing in number of samples to investigate the diversity of a population or species. These studies reveal new polymorphism that lead to important insights into the mechanisms of evolution, but are also important for the interpretation of these variations. Nevertheless, while the full catalog of variations across entire species remains unknown, we can predict which regions harbor additional not yet detected variations and investigate their properties, thereby enhancing the analysis for potentially missed variants.

Results

To achieve this we developed SVhound ( https://github.com/lfpaulin/SVhound ), which based on a population level SVs dataset can predict regions that harbor unseen SV alleles. We tested SVhound using subsets of t

SUBMITTER: Paulin LF 

PROVIDER: S-EPMC9854228 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature