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• W2920983736 abstract "Summary 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. Availability and implementation 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/ . Contact meberle@illumina.com" @default.
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• W2920983736 date "2019-03-09" @default.
• W2920983736 modified "2023-10-16" @default.
• W2920983736 title "ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions" @default.
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• W2920983736 doi "https://doi.org/10.1101/572545" @default.
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