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Article

BBmix: a Bayesian beta-binomial mixture model for accurate genotyping from RNA-sequencing.

Bioinformatics (Oxford, England) - 1 Jul 2023

Vigorito Elena, Barton Anne, Pitzalis Costantino, Lewis Myles J, Wallace Chris

Abstract excerpt

MOTIVATION: While many pipelines have been developed for calling genotypes using RNA-sequencing (RNA-Seq) data, they all have adapted DNA genotype callers that do not model biases specific to RNA-Seq such as allele-specific expression (ASE). RESULTS: Here, we present Bayesian beta-binomial mixture model (BBmix), a Bayesian beta-binomial mixture model that first learns the expected distribution of read counts for...

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PMID: 37338536
DOI: 10.1093/bioinformatics/btad393
PMCID: PMC10318392

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