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GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted in sequence analysis studies, although each has a relatively large impact on the genome. Here, we present GraphTyper2, which uses pangenome graphs to genotype SVs a...

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Библиографические подробности
Опубликовано в: :Nat Commun
Главные авторы: Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Beyter, Doruk, Jonsson, Hakon, Skuladottir, Astros, Hardarson, Marteinn T., Gudbjartsson, Daniel F., Stefansson, Kari, Halldorsson, Bjarni V., Melsted, Pall
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6881350/
https://ncbi.nlm.nih.gov/pubmed/31776332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-13341-9
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