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Dolzhenko, Egor; Deshpande, Viraj; Schlesinger, Felix; Krusche, Peter; Petrovski, Roman; Chen, Sai; Emig-Agius, Dorothea; Gross, Andrew; Narzisi, Giuseppe; Bowman, Brett; Scheffler, Konrad; van Vugt, Joke J F A; French, Courtney; Sanchis-Juan, Alba; Ibáñez, Kristina; Tucci, Arianna; Lajoie, Bryan R; Veldink, Jan H; Raymond, F Lucy; Taft, Ryan J; Bentley, David R; Eberle, Michael A
Bioinformatics, 11/2019, Letnik: 35, Številka: 22Journal Article
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/. Supplementary information Supplementary data are available at Bioinformatics online.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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