Hi everyone, Has anyone here used long-read sequencing data (PacBio or Oxford Nanopore) for SNP discovery? Long-read sequencing data is well known for their power in detecting structural variants, but I am interested in reliable SNP identification from the same data
Best,
2 answers
If you're working with HiFi data, I'd recommend checking out our variant calling pipeline. It runs variant calling (SNV, INDEL, SVs, and tandem repeats) and phasing (HiPhase).
https://github.com/PacificBiosciences/HiFi-human-WGS-WDL
HiFi SNV calling has exceptional performance (https://www.pacb.com/wp-content/uploads/Application-brief-Comprehensive-human-genomic-variant-detection-with-HiFi-long-read-sequencing.pdf)
When you have long reads the phasing information becomes more valuable than just straight up SNP calling.
There are many tools for SNP calling but fewer for phasing these variants.
Here are some papers that are a good start in my opinion:
- Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing, Nature Communications, 2019
- Long-read reconstruction of many diverse haplotypes with devider Genome Res. 2025
Study the references for these for more alternatives.
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ONT also has worflows available for variant calling:
https://github.com/epi2me-labs/wf-human-variation
https://github.com/epi2me-labs/wf-somatic-variation
https://github.com/epi2me-labs/wf-trio