Defining a tandem repeat catalog and variation clusters for genome-wide analyses.

ABSTRACT: Tandem repeat (TR) catalogs are important components of repeat genotyping studies as they define the genomic coordinates and expected motifs of all TR loci being analyzed. In recent years, genome-wide studies have used catalogs ranging in size from fewer than 200,000 to over 7 million loci. Where these catalogs overlapped, they often disagreed on locus boundaries, hindering the comparison and reuse of results across studies. Now, with multiple groups developing public databases of TR variation in large population cohorts, there is a risk that, without sufficient consensus in the choice of locus definitions, the use of divergent repeat catalogs will lead to confusion, fragmentation, and incompatibility across future resources. In this paper, we compare existing TR catalogs and discuss desir

SUBMITTER: Weisburd B 

PROVIDER: S-EPMC12632841 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature