Modelling segmental duplications in the human genome.

ABSTRACT:

Background

Segmental duplications (SDs) are long DNA sequences that are repeated in a genome and have high sequence identity. In contrast to repetitive elements they are often unique and only sometimes have multiple copies in a genome. There are several well-studied mechanisms responsible for segmental duplications: non-allelic homologous recombination, non-homologous end joining and replication slippage. Such duplications play an important role in evolution, however, we do not have a full understanding of the dynamic properties of the duplication process.

Results

We study segmental duplications through a graph representation where nodes represent genomic regions and edges represent duplications between them. The resulting network (the SD network) is quite complex and has di

SUBMITTER: Abdullaev ET 

PROVIDER: S-EPMC8254307 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature