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SNPs calling using long-read whole-genome sequencing

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,

long-reads snps pacbio

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:

Study the references for these for more alternatives.

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