2-AIN-506 a 2-AIN-252: Seminár z bioinformatiky (2) a (4)
Leto 2020

Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J. F. A. {van Vugt}, Courtney French, Alba Sanchis-Juan, Kristina Ibanez, Arianna Tucci, Bryan Lajoie, Jan H. Veldink, F. Lucy Raymond, Ryan J. Taft, David R. Bentley, Michael A. Eberle. ExpansionHunter: A sequence-graph based tool to analyze variation in short tandemrepeat regions. Bioinformatics, 2019.

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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