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gold
·인용수 4
·2025
GDBr: genomic signature interpretation tool for DNA double-strand break repair mechanisms
Ho Cheol Ryu, Hyun Ho Han, Chuna Kim, Jun Kim
IF 13.1Nucleic Acids Research
초록

Large genetic variants can be generated via homologous recombination (HR), such as polymerase theta-mediated end joining (TMEJ) or single-strand annealing (SSA). Given that these HR-based mechanisms leave specific genomic signatures, we developed GDBr, a genomic signature interpretation tool for DNA double-strand break repair mechanisms using high-quality genome assemblies. We applied GDBr to a draft human pangenome reference. We found that 78.1% of non-repetitive insertions and deletions and 11.0% of non-repetitive complex substitutions contained specific signatures. Of these, we interpreted that 98.7% and 1.3% of the insertions and deletions were generated via TMEJ and SSA, respectively, and all complex substitutions via TMEJ. Since population-level pangenome datasets are being dramatically accumulated, GDBr can provide mechanistic insights into how variants are formed. GDBr is available on GitHub at https://github.com/Chemical118/GDBr.

키워드
BiologyHomologous recombinationGeneticsDNAGenomeComputational biologygenomic DNARecombinationHomologous chromosomePopulation
타입
article
IF / 인용수
13.1 / 4
게재 연도
2025