FORGe: prioritizing variants for graph genomes

Genome Biol. 2018 Dec 17;19(1):220. doi: 10.1186/s13059-018-1595-x.

Abstract

There is growing interest in using genetic variants to augment the reference genome into a graph genome, with alternative sequences, to improve read alignment accuracy and reduce allelic bias. While adding a variant has the positive effect of removing an undesirable alignment score penalty, it also increases both the ambiguity of the reference genome and the cost of storing and querying the genome index. We introduce methods and a software tool called FORGe for modeling these effects and prioritizing variants accordingly. We show that FORGe enables a range of advantageous and measurable trade-offs between accuracy and computational overhead.

Publication types

  • Evaluation Study
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Genetic Variation*
  • Genome, Human
  • Genomics / methods*
  • Histocompatibility Testing
  • Humans
  • Models, Genetic*
  • Sequence Alignment*
  • Software*

Associated data

  • figshare/10.6084/m9.figshare.7325831
  • figshare/10.6084/m9.figshare.7325837
  • figshare/10.6084/m9.figshare.7325840
  • figshare/10.6084/m9.figshare.7327016