Article

Minimizing Reference Bias with an Impute-First Approach

2023-12-02

Abstract excerpt

Pangenome indexes reduce reference bias in sequencing data analysis. However, bias can be reduced further by using a personalized reference, e.g. a diploid human reference constructed to match a donor individual’s alleles. We present a novel impute-first alignment framework that combines elements of genotype imputation and pangenome alignment. It begins by genotyping the individual using only a subsample of the in...

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Literature Corpus work: 5ec864f0-ba2e-59d4-9888-a0c6a3fbb36d
DOI: 10.1101/2023.11.30.568362

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