Domain: seqanswers.com
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Comments · 35
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Re:Don't believe the hype
If the 'Proton 2' chip (which we probably won't see this year) lives up to the hype, then with reasonable assumptions about read length and numbers of active sites, it may manage whole genome at 30x:
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Re:Don't believe the hype
With whole exome sequencing like this, you pay the fee once, and have all* the data medical science will ever need about you...* Not counting repetitive elements, promoter regions, UTRs, spacer DNA, or the epigenome
Not just exome, but whole genome in about a year (they claim), so everything except the epigenome. Some interesting discussion here:
http://pathogenomics.bham.ac.uk/blog/2012/01/ion-torrent-proton-the-chip-is-not-the-machine/
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All roads lead to Linux
It does not matter how you access Linux... I personally use Ubuntu (not Kubuntu) with KDE4 to work remotely on expensive (>$15,000) Linux servers. My friends use both Windows and OS X.
A reasonably thorough table of next-gen-seq software available in the commercial and public domain:
http://seqanswers.com/forums/showthread.php?t=43 -
Re:Humans have ~810.6 MiB of DNA
'The new method sounds like they're doing a microarray or something and just storing high resolution jpegs. I could see why that would require oodles of image processing power. It does seem like an odd storage format for what's essentially linear data.'
There's a good summary of the technology here:
http://seqanswers.com/forums/showthread.php?t=21
Millions of short sequences are analysed in a massively parallel way, and you need to take a new high resolution image for every cycle to see which 'polonies' the new base has been added to, so obviously there's a large of image data to store (you can throw it away afterwards, of course, but since it probably cost you several thousand $USD to generate, you might want to hang on to it for a bit until you're sure you've analysed it properly).
But the image series isn't the only large data set you have to deal with. A Solexa/Illumina sequencer can generate 20 gigabases of data from a single paired-end run. This seems like a lot, but you'll actually need multiple runs to assemble a genome with any confidence (to make sure you've got both alleles, and can distinguish variants from artefacts - 30-fold 'depth' is common). It's this raw short read data, rather than the images, that would typically be delivered to a scientific end user (algorithms to assemble and align it to a reference genome are still in active development, so you probably don't want to throw it away in case a better method of processing it comes along next month).
Even the final product, a complete assembled genome, takes up a bit more space than you might think. You'll be getting diploid data, so that's over 6 gigabases. And although 2-bit encoding is used for some purposes (like BLAT databases for fast pattern matching), finished sequences are typically stored as standard 8-bit ascii text files for convenience, so the whole thing is over 6Gb uncompressed (a couple of Gb gzipped). James Watson got his genome on a couple of (presumably single layer) DVDs. Commercial personal genomics services will ship yours on a fancy encrypted USB stick:
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The offerings: Navigenics vs 23andMe vs deCODEme
The three main personalized genomics companies that have hinted at their offerings (23andMe, deCODEme, and Navigenics) are all basically offering the same product, SNP genotyping:
23andMe: 550k SNPs + 30k custom SNPs, $999
deCODEme: >1M SNPs, $985
Navigenics: $2500, with hints at a "lock-in" model where you purchase a subscription service for continued updates as science understands more about disease:genotype correlation.
...however, deCODEme is founded by perhaps the largest private genetics-centered biopharma firm. It will be interesting to see how this plays out as the IT-strong 23andMe competes with the science-strong deCODEme.
One company that was not mentioned is Knome. They haven't released details of their service, but instead of SNPs, they plan to offer whole genome sequencing. This is the direction that all of the above companies will head, once it's economically feasible to sequence the whole genome.
(Most of this has been summarized on my site: http://seqanswers.com)