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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Detalles Bibliográficos
Autores principales: Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Beyter, Doruk, Jonsson, Hakon, Skuladottir, Astros, Hardarson, Marteinn T., Gudbjartsson, Daniel F., Stefansson, Kari, Halldorsson, Bjarni V., Melsted, Pall
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881350/
https://www.ncbi.nlm.nih.gov/pubmed/31776332
http://dx.doi.org/10.1038/s41467-019-13341-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881350/
https://www.ncbi.nlm.nih.gov/pubmed/31776332
http://dx.doi.org/10.1038/s41467-019-13341-9

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