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What about Haplotype reconstruction and Minia

Open jblamyatifremer opened this issue 6 years ago • 1 comments

Hi Minia Creators,

Did you have any idea/clues about the behaviour of Minia on a targeted genes with high ploidy samples (tumors) ?

best Regards, JB

jblamyatifremer avatar Jan 31 '20 08:01 jblamyatifremer

Hi, if you have high sequencing coverage / high read length, and make sure to use a high k value (or alternatively use https://github.com/GATB/gatb-minia-pipeline), then perhaps Minia can be able to reconstruct and separate haplotypes. The key is that the k-mer size needs to be longer than the longest region where no variant occurs between two haplotypes, and that this region needs to be spanned by sufficiently many error-free portions of reads. If this is not the case, then haplotypes will be reconstructed in separate contigs. It is possible to tune parameters to nudge Minia towards reconstructing a consensus sequence versus separating haplotypes but this is a bit advanced (the -bulge-* params for which there is no documentation) and not guaranteed to work, but if you would like to go this route, let me know. Rayan

rchikhi avatar Feb 02 '20 17:02 rchikhi