Variation graph toolkit improves read mapping by representing genetic variation in the reference.

ABSTRACT: Reference genomes guide our interpretation of DNA sequence data. However, conventional linear references represent only one version of each locus, ignoring variation in the population. Poor representation of an individual's genome sequence impacts read mapping and introduces bias. Variation graphs are bidirected DNA sequence graphs that compactly represent genetic variation across a population, including large-scale structural variation such as inversions and duplications. Previous graph genome software implementations have been limited by scalability or topological constraints. Here we present vg, a toolkit of computational methods for creating, manipulating, and using these structures as references at the scale of the human genome. vg provides an efficient approach to mapping reads onto

SUBMITTER: Garrison E 

PROVIDER: S-EPMC6126949 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature