Ontology highlight
ABSTRACT:
SUBMITTER: Kim J
PROVIDER: S-EPMC9546902 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Kim Junho J Huang August Yue AY Johnson Shelby L SL Lai Jenny J Isacco Laura L Jeffries Ailsa M AM Miller Michael B MB Lodato Michael A MA Walsh Christopher A CA Lee Eunjung Alice EA
Nature communications 20221007 1
Replication errors and various genotoxins cause DNA double-strand breaks (DSBs) where error-prone repair creates genomic mutations, most frequently focal deletions, and defective repair may lead to neurodegeneration. Despite its pathophysiological importance, the extent to which faulty DSB repair alters the genome, and the mechanisms by which mutations arise, have not been systematically examined reflecting ineffective methods. Here, we develop PhaseDel, a computational method to detect focal de ...[more]