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FORGe: prioritizing variants for graph genomes.


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.

SUBMITTER: Pritt J 

PROVIDER: S-EPMC6296055 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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FORGe: prioritizing variants for graph genomes.

Pritt Jacob J   Chen Nae-Chyun NC   Langmead Ben B  

Genome biology 20181217 1


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 priorit  ...[more]

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