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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko1, Viraj Deshpande1, Felix Schlesinger1

  • 1Illumina Inc., San Diego, CA 92122, USA.

Bioinformatics (Oxford, England)
|May 29, 2019
PubMed
Summary

A new computational method and software, ExpansionHunter, accurately genotypes medically important repeat loci. This addresses challenges with variants and imperfect DNA repeats like polyalanine repeats.

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