SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads - PubMed
4 hours ago
- #allele-specific analysis
- #SNP calling
- #haplotype phasing
- Introduces longcallR, a tool for SNP calling, haplotype phasing, and allele-specific analysis using long RNA-seq reads.
- Addresses the gap in end-user tools for linking transcript structures to genetic variants with long-read RNA sequencing.
- Achieves high accuracy on benchmark datasets and identifies significant allele-specific splicing events in human samples.
- Identifies an average of 88 significant allele-specific splicing events per sample, with 46% involving unannotated junctions.