794-LongcallR: SNP Calling of Long-read RNA-seq

Paper Talk · Apr 14, 2026 · 23m

Researchers have introduced longcallR, a new computational tool designed to analyze long-read RNA sequencing data by integrating SNP calling, haplotype phasing, and allele-specific analysis. This pipeline addresses the unique difficulties of transcriptomic data, such as uneven coverage and alignment errors, by using a deep convolutional neural network to predict genetic variants. Beyond identifying mutations, the software group reads into specific parental haplotypes to detect allele-specific expression and splicing events with high precision. When tested on over 200 human samples, the tool…