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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Vydáno v:Nat Commun
Hlavní autoři: Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Beyter, Doruk, Jonsson, Hakon, Skuladottir, Astros, Hardarson, Marteinn T., Gudbjartsson, Daniel F., Stefansson, Kari, Halldorsson, Bjarni V., Melsted, Pall
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2019
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On-line přístup: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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