Finding and extending ancient simple sequence repeat-derived regions in the human genome.

ABSTRACT:

Background

Previously, 3% of the human genome has been annotated as simple sequence repeats (SSRs), similar to the proportion annotated as protein coding. The origin of much of the genome is not well annotated, however, and some of the unidentified regions are likely to be ancient SSR-derived regions not identified by current methods. The identification of these regions is complicated because SSRs appear to evolve through complex cycles of expansion and contraction, often interrupted by mutations that alter both the repeated motif and mutation rate. We applied an empirical, kmer-based, approach to identify genome regions that are likely derived from SSRs.

Results

The sequences flanking annotated SSRs are enriched for similar sequences and for SSRs with similar motifs, sugges

SUBMITTER: Shortt JA 

PROVIDER: S-EPMC7027126 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature