Article

SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads

2025-05-29

Abstract excerpt

Long-read RNA sequencing (lrRNA-seq) is a powerful technology to link transcript structures to genetic variants but such analysis is not often performed due to the lack of end-user tools. Here, we introduce longcallR for joint SNP calling, haplotype phasing, and allele-specific analysis, which achieves high accuracy on benchmark datasets. Applied to 202 human samples, longcallR identified 88 significant allele-spe...

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Literature Corpus work: 43fa8eff-a92e-55c6-86ec-ba0e4ca4e987
DOI: 10.1101/2025.05.26.656191

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