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

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

Structural variants may be omitted in sequence analysis despite their importance in genome variation and phenotypic impact. Here the authors present GraphTyper2, which uses pangenome graphs to genotype structural variants using short-reads and can be applied in large-scale sequencing studies.

Bibliographic Details
Main Authors: Hannes P. Eggertsson, Snaedis Kristmundsdottir, Doruk Beyter, Hakon Jonsson, Astros Skuladottir, Marteinn T. Hardarson, Daniel F. Gudbjartsson, Kari Stefansson, Bjarni V. Halldorsson, Pall Melsted
Format: Article
Language:English
Published: Nature Publishing Group 2019-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-13341-9

Internet

https://doi.org/10.1038/s41467-019-13341-9

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