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Using long reads to find a combination of mutations

Does anyone know of a way to quantify multiple connected mutations on single reads? I am trying to use my nanopore reads to see if specific combinations stand out. The reads are pretty noisy and doing it by hand seems tedious!

nanopore long reads snp variants

This is on the right track of what I want to do. I forgot to mention I am not working with a diploid genome, but a plasmid library. I am not sure if this program will give me the data I am looking for, but I will test it out.

1 answer

Whatshap or Phaser https://github.com/secastel/phaser are on the right track here.

However I think these problems a) only work with maximal diploid ploidy and b) will struggle with nanopore reads.

I would first correct the reads by running canu on them, then use the resultant corrected fastq for further analysis.

Good luck

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