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BioinformaticsGenome biology
Peer-reviewed journal article

FORGe: prioritizing variants for graph genomes

Jacob Pritt, Nae-Chyun CheniD, Ben LangmeadiD

Abstract

There is growing interest in using genetic variants to augment the reference genome into a \"graph genome\" 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.

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02 /Specification & Classification

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