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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.

Jihoon G Yoon1, Seungbok Lee1,2, Jaeso Cho1,2

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Integrating short tandem repeat (STR) analysis into exome sequencing significantly improves diagnosis for neurogenetic disorders. This approach identified new genetic conditions and expanded understanding of repeat expansions in specific populations.

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Area of Science:

  • Genetics and Genomics
  • Neurogenetics
  • Bioinformatics

Background:

  • Over 50 short tandem repeat (STR) disorders are known, but clinical exome sequencing rarely includes STR analysis.
  • Neurogenetic disorders often involve repeat expansions, necessitating advanced diagnostic tools.
  • The diagnostic yield of incorporating STR analysis into exome sequencing remains underexplored.

Purpose of the Study:

  • To evaluate the diagnostic utility of analyzing short tandem repeats (STRs) within exome sequencing data.
  • To identify pathogenic repeat expansions in individuals with suspected neurogenetic disorders.
  • To determine the prevalence of expanded ATXN1 alleles in the Korean population.

Main Methods:

  • Analyzed 6099 exomes from 2510 families using ExpansionHunter and REViewer for STR analysis.
  • Confirmed detected pathogenic repeat expansions through orthogonal validation methods.
  • Performed genotype-phenotype correlation for diagnosed individuals.

Main Results:

  • Diagnosed thirteen individuals from seven previously undiagnosed families, identifying three autosomal dominant disorders: dentatorubral-pallidoluysian atrophy, spinocerebellar ataxia type 7, and myotonic dystrophy type 1.
  • Achieved a diagnostic gain of 0.28% (7/2510) through STR analysis in exomes.
  • Identified expanded ATXN1 alleles (≥39 repeats) in twelve individuals, representing 0.19% of the Korean population studied.

Conclusions:

  • Integrating STR analysis into exome sequencing pipelines enhances diagnostic capabilities for neurogenetic disorders.
  • Exome sequencing can be broadened to effectively assess STRs, improving diagnostic yield.
  • This study highlights the clinical significance of STR analysis for identifying genetic disorders.