Profiling the Genome-Wide Landscape of Short Tandem Repeats by Long-Read Sequencing.

ABSTRACT: Background: Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases and the regulation of gene expression. Long-read sequencing (LRS) offers a potential solution to genome-wide STR analysis. However, characterizing STRs in human genomes using LRS on a large population scale has not been reported. Methods: We conducted the large LRS-based STR analysis in 193 unrelated samples of the Chinese population and performed genome-wide profiling of STR variation in the human genome. The repeat dynamic index (RDI) was introduced to evaluate the variability of STR. We sourced the expression data from the Genotype-Tissue Expression to explore the tissue specificity of highly variable STRs related genes across tissues. Enrichment analy

SUBMITTER: Liu Z 

PROVIDER: S-EPMC9117641 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature