Ontology highlight
ABSTRACT:
SUBMITTER: Garrison E
PROVIDER: S-EPMC6126949 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Garrison Erik E Sirén Jouni J Novak Adam M AM Hickey Glenn G Eizenga Jordan M JM Dawson Eric T ET Jones William W Garg Shilpa S Markello Charles C Lin Michael F MF Paten Benedict B Durbin Richard R
Nature biotechnology 20180820 9
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 ...[more]