Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats.

ABSTRACT: There are more than 55,000 variable number tandem repeats (VNTRs) in the human genome, notable for both their striking polymorphism and mutability. Despite their role in human evolution and genomic variation, they have yet to be studied collectively and in detail, partially owing to their large size, variability, and predominant location in noncoding regions. Here, we examine 467 VNTRs that are human-specific expansions, unique to one location in the genome, and not associated with retrotransposons. We leverage publicly available long-read genomes, including from the Human Genome Structural Variant Consortium, to ascertain the exact nucleotide composition of these VNTRs and compare their composition of alleles. We then confirm repeat unit composition in more than 3000 short-read samples fr

SUBMITTER: Course MM 

PROVIDER: S-EPMC8327921 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature