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Thread | Thread Starter | Forum | Replies | Last Post |
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#1 |
Junior Member
Location: Colorado Join Date: Nov 2019
Posts: 1
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I am trying to assemble haplotypes for a peculiar region of the human genome that (1) has high heterozygosity, (2) has variation in presence or absence of entire genes, and (3) encompasses a gene cluster of highly similar paralogues. This is obviously making assembly difficult, since a paralogue on the same chromosome may have only 10% divergence from its duplicate, while the homologue on the other chromosome has 5% differences due to segregating polymorphism at that locus. Currently, I have nanopore and short reads from this region, both at approximately 30X coverage. I would like to use canu to assemble the nanopore reads, then short reads to polish, but I am getting nowhere near the full assembly. My command is
Code:
canu -p prefix -d canu_run genomeSize=250k correctedErrorRate=0.144 minOverlapLength=500 -nanopore-raw sample.fastq |
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#2 |
Registered Vendor
Location: Eugene, OR Join Date: May 2013
Posts: 521
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This isn't so helpful to solve the asked problem, but PacBio HiFi reads might be a better choice since you can generate 15kb sequences at 1% or 0.1% error rates. They might more obviously segregate into 4 bins (2 haplotypes at a locus, 2 at paralogous locus).
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Tags |
assembly, canu, heterozygous, nanopore, phase |
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