ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 31134279.
- Also identified by DOI 10.1093/bioinformatics/btz431 and PMC identifier 6853681.
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Abstract
We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA repeats such as polyalanine repeats. Here we introduce a new version of our repeat genotyping software, ExpansionHunter, that uses this method to perform targeted genotyping of a broad class of such loci. ExpansionHunter is implemented in C++ and is available under the Apache License Version 2.0. The source code, documentation, and Linux/macOS binaries are available at https://github.com/Illumina/ExpansionHunter/. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Microsatellite Repeats
- Software