biorxiv.org

LongAllele: a joint inference framework for allele-specific analysis on long-read bulk and single-cell RNA sequencing (opens in new tab)

Allele-specific analysis from RNA-seq is a powerful approach to characterize cis-regulatory effects. However, existing methods remain limited in both haplotype inference and allelic testing. Their haplotype-inference workflows separate variant calling, haplotype phasing, and read-haplotype assignment into sequential steps, failing to fully exploit within-read SNV linkage information and propagating errors into downstream allelic analysis. At the testing stage, they ignore non-phasable reads l...

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