First Illumina Complete Long Reads Preprint

Readers of this space might have detected a significant slant towards skepticism in my coverage of Illumina Complete Long Reads (iCLR), exacerbated by now deposed Illumina CEO Francis deSouza claiming it isn't a synthetic read technology.   Illumina's posters on iCLR at AGBT this year seemed to reinforce my view that Illumina was marketing purely on short-read like terms - call SNPs in a few more hard-to-map regions of the genome, but not really compete head-to-head with the true long read platforms.   But now there isa preprint out on MedRxiv that reports iCLR results for a Genome In A Bottle (GIAB) sample as well as seven samples from individuals wiith potential genetic diseases of unresolved cause.   The GIAB sample was also sequenced with some of the latest Oxford Nanopore chemistry (Duplex R10.4.1) and as HiFi libraries on PacBio Revio - enabling comparisons of the platforms.  The preprint is probably going to be revised and expanded - I'm certainly hoping some of my comments are found constructive - but is very useful to see.   And perhaps it will soften positions such as mine on iCLR's utility.Read more »
Source: Omics! Omics! - Category: Bioinformatics Authors: Source Type: blogs