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

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 int...

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Veröffentlicht in:Bioinformatics
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6853681/
https://ncbi.nlm.nih.gov/pubmed/31134279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btz431
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