Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.

ABSTRACT: Short tandem repeats (STRs) are associated with 70 genetic diseases. Because of the short read length of exome sequencing (ES), STR analysis is not routinely analyzed in clinical ES. So far, there has been limited systematic evaluation using large-scale clinical ES data to assess the diagnostic yield of pathogenic STR expansion. This study retrospectively analyzed 9580 exomes referred to our genetic laboratory between July 2019 and June 2024. The samples were divided into two groups: a genetically undiagnosed cohort (n = 4692) and a reference cohort with a low probability of carrying pathogenic STR expansions (n = 4888). An analysis pipeline was developed on the basis of the combination of multiple algorithms to analyze STRs detected in 30 known disease-related loci, achieving a precision

SUBMITTER: Xu S 

PROVIDER: S-EPMC12597560 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature