Ontology highlight
ABSTRACT:
SUBMITTER: Ren J
PROVIDER: S-EPMC10373352 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Ren Jingwen J Gu Bida B Chaisson Mark J P MJP
Genome biology 20230727 1
Roughly 3% of the human genome is composed of variable-number tandem repeats (VNTRs): arrays of motifs at least six bases. These loci are highly polymorphic, yet current approaches that define and merge variants based on alignment breakpoints do not capture their full diversity. Here we present a method vamos: VNTR Annotation using efficient Motif Sets that instead annotates VNTR using repeat composition under different levels of motif diversity. Using vamos we estimate 7.4-16.7 alleles per locu ...[more]