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Genome Researchers Have Too Much Data

An anonymous reader writes "The NY Times reports, 'The field of genomics is caught in a data deluge. DNA sequencing is becoming faster and cheaper at a pace far outstripping Moore's law. The result is that the ability to determine DNA sequences is starting to outrun the ability of researchers to store, transmit and especially to analyze the data. Now, it costs more to analyze a genome than to sequence a genome. There is now so much data, researchers cannot keep it all.' One researcher says, 'We are going to have to come up with really clever ways to throw away data so we can see new stuff.'"

56 of 239 comments (clear)

  1. Last post by Anonymous Coward · · Score: 2, Funny

    All previous posts have been purged due to too much data.

    1. Re:Last post by NFN_NLN · · Score: 5, Funny

      There is now so much data, researchers cannot keep it all.' One researcher says, 'We are going to have to come up with really clever ways to throw away data so we can see new stuff.'"

      Perhaps they can come up with a new type of storage mechanism modeled after nature. They could store this data in tight helical structures and instead of base 2 use base 4.

    2. Re:Last post by edremy · · Score: 4, Informative
      The error rate is too high- data copying using that medium and the best available (naturally derived) technology makes an error roughly every 100,000 bases. There are existing correction routines, but far too much data is damaged on copy, even given the highly redundant coding tables.

      Then again, it could be worse: you could use the single strand formulation. Error rates are far higher. This turns out to be a surprisingly effective strategy for organisms using it, although less so for the rest of us.

      --
      "Seven Deadly Sins? I thought it was a to-do list!"
  2. Wrong problem by sunderland56 · · Score: 4, Interesting

    They don't have too much data, they have insufficient affordable storage.

    1. Re:Wrong problem by TheRealMindChild · · Score: 2

      "to the cloud!"

      --

      "When life gives you lemons, don't make lemonade. Make life take the lemons back!" -- Cave Johnson
    2. Re:Wrong problem by bugs2squash · · Score: 5, Funny

      If only they had some kind of small living cell it could be stored in...

      --
      Nullius in verba
    3. Re:Wrong problem by jacoby · · Score: 4, Insightful

      Yes and no. It isn't just storage. What we have comes off the the sequencers as TIFFs first, and after the first analysis we toss the TIFFs to free up some big space. But that's just the first analysis, and we go to machines with kilo-cores and TBs of memory in multiple modes, and many of our tools are not yet written to be threaded.

    4. Re:Wrong problem by TooMuchToDo · · Score: 5, Informative

      Genomes have *a lot* of redundant data across multiple genomes. It's not hard to do de-duplication and compression when you're storing multiple genomes in the same storage system.

      Wikipedia seems to agree with me:

      http://en.wikipedia.org/wiki/Human_genome#Information_content

      The 2.9 billion base pairs of the haploid human genome correspond to a maximum of about 725 megabytes of data, since every base pair can be coded by 2 bits. Since individual genomes vary by less than 1% from each other, they can be losslessly compressed to roughly 4 megabytes.

      Disclaimer: I have worked on genome data storage and analysis projects.

    5. Re:Wrong problem by Anonymous Coward · · Score: 2, Informative

      Only kind of kind of correct - they also don't really have a clue as to the accuracy, with the short read illuminas that dominate, they have problems with repeats and inversions and deltions, the basepairs with hydroxy methyl C or thiophosphate, the sequence of the centromeres and telomeres, and the ability to contigs into phase with parental genomes....aside from that, it's all peachy

      oh yeah, I bet the contamination rates are not real good either (there was a paper a few months ago on this, looking at public data bases, kinda scary)

    6. Re:Wrong problem by GAATTC · · Score: 5, Informative

      Nope - the bottleneck is largely analysis. While the volume of the data is sometimes annoying in terms of not being able to attach whole data files to emails (19GB for a single 100bp flow cell lane from a HiSeq2000) it is not an intellectually hard problem to solve and it really doesn't contribute significantly to the cost of doing these experiments (compared to people's salaries). The intellectually hard problem has nothing to do with data storage. As the article states "The result is that the ability to determine DNA sequences is starting to outrun the ability of researchers to store, transmit and especially to analyze the data.". We just finished up generating and annotating a de novo transcriptome (sequences of all of the expressed genes in an organism without a reference genome). Sequencing took 5 days and cost ~$1600. Analysis is going on 4 months and has taken at least one man year at this point and there is still plenty of analysis to go.

    7. Re:Wrong problem by StikyPad · · Score: 5, Funny

      Warning: Monkeying with lossy compression for human genomic data may lead to monkeys.

    8. Re:Wrong problem by Anonymous Coward · · Score: 3, Informative

      It's not lossy compression.

      You store the first human's genome exactly. Then you store the second as a bitmask of the first -- 1 if it matches, 0 if it doesn't. You'll have 99% 1's and 1% 0's. You then compress this.

      Of course it's more complicated than this due to alignment issues, etc, but this need not be lossy compression

    9. Re:Wrong problem by Hognoxious · · Score: 2

      Given recent events in Thailand, it might be wise to replace the mini-van with something that floats.

      --
      Confucius say, "Find worm in apple - bad. Find half a worm - worse."
    10. Re:Wrong problem by buchner.johannes · · Score: 2

      To be clear, the problem is this. The sequencing (cheap now) produces a lot of strips of a few DNA elements. They are overlapping, and its unknown from which position they are from.

      So the difficulty is to arrange those strips to reproduce the original DNA sequence. It is a NP-hard problem, no wonder Moore's law doesn't outrun that!

      --
      NB: The message above might reflect my opinion right now, but not necessarily tomorrow or next year.
    11. Re:Wrong problem by c6gunner · · Score: 2

      So compressed, you have 4 megabytes of data...per individual. 7 billion individual human beings means you potentially need 28 petabytes of storage...

      I'm not sure why you'd want to store the genome of every human on the planet, but for that kind of project 28 petabytes is peanuts. The newest IBM storage array is 120-ish petabytes. We're talking about storing 4 megabytes per person. In the modern world, most people have at least a 4 gigabyte flash drives. I could store the genomic information of myself, all my relatives, and all my friends, and still have space left over.

    12. Re:Wrong problem by Daniel+Dvorkin · · Score: 2

      I thought that was a solved problem.

      No, sequence assembly is still an area of active research; here is a sampling of papers published on the problem this year alone. Part of the problem is that "next gen" sequencing produces reads which are less reliable the farther down the fragment you go -- and the fragments are short, so there a hell of a lot of them to reassemble. The overall volume of sequencing is getting bigger and cheaper all the time, but there are some really serious reliability problems that need to be ironed out.

      --
      The correlation between ignorance of statistics and using "correlation is not causation" as an argument is close to 1.
    13. Re:Wrong problem by GAATTC · · Score: 2

      We're trying to do a good job with the annotation which includes manually curating the gene families we are interested in, characterize splicing isoforms, and we're looking for genes/gene families that may be expanded or unique and provide us with insights into the evolution of the unique morphological structures we study in our critter.

    14. Re:Wrong problem by elyons · · Score: 2

      Well, as others have said, this is kind of correct. After sequencing, the raw reads (short sequences of DNA) are assembled into either transcripts of genome fragments (usually called contigs). This leads to a great reduction in the amount of data, but there is a lot of concern by scientists over whether or not to save all the raw data for future work. My take is that unless the sample is impossible to collect DNA/RNA from again, then toss it and assume that the sequencing technology will be better/faster/cheaper/longer in the future.

      I'm actually involved with a large US National Science Foundation project to help build the cyberinfrastructure to help handle these data and analyses: the iPlant Collaborative: http://iplantcollaborative.org./ In addition, I maintain a set of web-based software for comparative genomics: CoGe, http://genomevolution.org./ From the standpoint of genomes, I adopted the philosophy of building a system that can easily accommodate new versions of existing genomes and new genomes. Thus, as new data becomes available, they get quickly loaded into the system and made available for analysis by any of the existing tools or compared to any of the already loaded genomes. So far, the system has scaled quite well and it is storing over 16,000 genomes from over 12,500 organisms. While the science is a lot of fun (sort of like the ultimate video game except no one knows the rules and there are no pre-built user interfaces), it is awesome to see how quickly the number of sequenced genomes has grown over such a short period of time. This is driven by how cheap the technology has become to use and the quantity of data that can be produced. For those interested, the National Human Genome Research Institute keeps track of this and has some very informative graphs: http://www.genome.gov/SequencingCosts/.

      While it has also been said, the analyses and interpretation of these data is extremely rate limiting. Lots of opportunity for folks with programming, algorithm, data visualization, web, and user interface experience.

    15. Re:Wrong problem by StikyPad · · Score: 2

      I didn't say it was lossy compression, I was just warning against it... though judging by your response, it may already be too late!

    16. Re:Wrong problem by mlush · · Score: 2

      The internet needs to catch up first.

      At my Uni I can get ~80Mbps download 40Mbps upload speed. One high throughput sequencer can generate ~700GB/day (1) so it would take 1.6 days to upload 1 days worth of data. For a small lab it may just be possible in improve the upload speed enough to get by on. But with little to no margin of downtime.

      (1) this data can be discarded after analysis but needs to be retained for at least 2-3 months in case a reanalysis is needed

  3. Nope by masternerdguy · · Score: 3, Insightful

    No such thing as too much data on a scientific topic.

    --
    To offset political mods, replace Flamebait with Insightful.
    1. Re:Nope by blair1q · · Score: 2, Insightful

      Sure there is.

      They're collecting data they can't analyze yet.

      But they don't have to collect it if they can't analyze it, because DNA isn't going away any time soon.

      It's like trying to fill your swimming pool before you've dug it. I hope you have a sealed foundation, because you've got too much water. You might as well wait, because it's stupid to think you'll lose your water connection before the pool is done.

      Same way they've got too much data. No reason for them to be filling up disk space now if they can just get the data again when they know what to do with it.

  4. Bad... by Ixne · · Score: 3, Insightful

    Throwing out data in order to be able to analyze other data, especially when it comes to genes and how they interact, sounds like one of the worst ideas I've heard.

    1. Re:Bad... by Samantha+Wright · · Score: 3, Informative

      Although that isn't quite what we're talking about here, reductionism in biology has been an ongoing problem for decades. Traditional biochemists often reduce the system they're examining to simple gene-pair interactions, or perhaps a few components at once, and focus only on the disorders that can be succinctly described by them. That's why very small-scale issues like haemophilia and sickle-cell anaemia were sorted out so early on. As diseases with larger and more complex origins become more important, research and money is being directed toward them. Cancer has been by far the most powerful driving force in the quest to understand biology from a broader viewpoint, primarily because it's integrally linked to a very important, complicated process (cell replication) that involves hundreds if not thousands of genes, miRNAs, and proteins.

      --
      Bio questions? Ask me to start a Q&A journal. Computer analogies available for most topics!
    2. Re:Bad... by EricScott · · Score: 2

      I specialize in compressing (20:1), in real-time, stock quotes (and anything else that trades). On the order of a few million records/sec, a few billion records a day. I'd like to take a look at a sample file that needs to be compressed -- based on what I've read so far, I'm thinking my algorithm classes might just work right out of the box. How difficult would it be to obtain this information to test ?

  5. Time for the scientists to ge to work by Hentes · · Score: 4, Insightful

    Most scientific topics are like this, there is too much raw data to analize it all. But a good scientist can spot the patterns and can distinguish between important stuff and noise.

    1. Re:Time for the scientists to ge to work by BagOBones · · Score: 5, Insightful

      Research team finds important role for junk DNA
      http://www.princeton.edu/main/news/archive/S24/28/32C04/

      Accept in the field of DNA they still don't know what is and is not important.

      --
      EA David Gardner -"... but the consumers have proven that actually what they want is fun."
    2. Re:Time for the scientists to ge to work by sirlark · · Score: 4, Insightful

      A good scientist will design the experiment before collecting the data. If he spots patterns, it's because something interesting happened to another experiment. Then he'll design a new experiment to collect data on the interesting thing.

      Flippant response: A good scientist doesn't delete his raw data...

      More sober response: Except to do an experiment said scientist might need a sequence. And that sequence needs to be stored somewhere, often in a publicly accessible database as per funding stipulations. And that sequence has literally gigabytes more information than he needs for his experiment, because he's only looking at part of the sequence. Consider also that sequencing a small genome may take a few days in the lab, but annotating can take weeks or even months of human time. And the sequence is just the tip of the iceberg, it doesn't tell us anything because we need to know how the genome is expressed, and how the expressed genes are regulated, and how they are modified after transcription, and how they are modified after translation, and how the proteins that translation forms interact with other proteins and sometimes with the DNA itself. Life is messy, and singling out stuff for targeted experimentation in the biosciences is a lot more difficult than in physics, and even chemistry.

      Seriously, this is a non-problem. Don't waste resources keeping and managing the data if you can make more. And I can't imagine how you can't make more data from DNA. The stuff is everywhere.

      Sequencing may be getting cheaper, but it's not so cheap that scientists facing funding cuts can afford to throw away data simply to recreate it. Also, DNA isn't the only thing that's sequenced or used. Protein's are notoriously hard to purify and sequence, RNA can also be difficult to get in sufficient quantities. The only reason DNA is plentiful is because it's so easy to copy using PCR, but those copies are not necessarily perfect.

  6. They should learn by hbar+squared · · Score: 4, Insightful

    ...from CERN. Sure, the Grid was massively expensive, but I doubt genome researchers are generating 27 TB of data per day.

    1. Re:They should learn by Samantha+Wright · · Score: 2

      As an aside, BGI is not just any centre, it is the centre. Much like biochemists send their crystals to a synchrotron for X-ray crystallography, biologists send their sequences to BGI to get them sequenced. They own something like 180 high-throughput sequencing instruments, which is about 5-10% of the installed base, give or take.

      --
      Bio questions? Ask me to start a Q&A journal. Computer analogies available for most topics!
    2. Re:They should learn by Arabani · · Score: 2

      At BGI they have 180 machines... each run from a machine is approximately 3 TB of raw data. A single run takes one week. That is 77 TB per day of data being produced. And that is only BGI.. there are at least 180 machines outside of BGI scattered across the world. So imagine 140TB per day.

      CERN is nothing compared to Genomic data.

      When LHC is running at full luminosity, it produces roughly a megabyte per event per detector (for CMS and ATLAS at least). Of course, the events are happening at ~40MHz, so 288 TB of raw data per hour. That's why they have to trigger, and hence throw out 99% of the data.

      Genomic data is nothing compared to elementary particles.

  7. Is it .. by ackthpt · · Score: 3, Interesting

    Is it outpacing their ability to file patents on genome sequences?

    --

    A feeling of having made the same mistake before: Deja Foobar
  8. as a genome researcher by ecorona · · Score: 5, Informative

    As a genome researcher, I'd like to point out that I, for one, do not have nearly enough genome data. I simply need about 512GB of RAM on a computer with a hard drive that is about 100x faster than my current SSD, and processing power about 1000x cheaper. Right now, I bite the bullet and carefully construct data structures and implement all sorts of tricks make the most out of the RAM I do have, minimize how much I have to use a hard drive, and extract every bit of performance available out of my 8 core machine. I wait around and eventually get things done, but my research would go way faster and be more sophisticated if I didn't have these hardware limitations.

    1. Re:as a genome researcher by Overzeetop · · Score: 4, Insightful

      It will come, but it doesn't make the wait less frustrating. I'm an aerospace engineer, and I remember building and preparing structural finite element models by hand on virtual "cards" (I'm not old enough to have used actual cards), and trying to plan my day around getting 2-3 alternate models complete so that I could run the simulations overnight. In the span of 5 years, I was building the models graphically on a PC, and runs were taking less than 30 minutes. Now, I can do models of foolish complexity and I fret when a run takes more than a minute, wondering if the computer has hung on a matrix inversion that isn't converging.

      You should, in some ways, feel lucky you weren't trying to do this twenty years ago. I understand your frustration, though.

      Just think - in twenty years, you'll be able to tell stories about hand coding optimizations and efficiencies to accommodate the computing power, as you describe to your intern why she's getting absolute garbage results from what looks like a very complete model of her project.

      --
      Is it just my observation, or are there way too many stupid people in the world?
  9. Isn't it compressable? by BlueCoder · · Score: 2

    I would figure most genomes are highly compressible. Especially if compressed against thousands of samples of a species and even across different species.

    I have half my mothers genome and half my fathers. I couldn't have that many mutations. To store all three genomes couldn't take more than 2.0001 times the size of a human genome.

    1. Re:Isn't it compressable? by Derekloffin · · Score: 2

      That is what I was thinking. Maybe they just need a more customized compression algorithm. The problem there, I suppose, is figure out matches can be an expensive operation in itself.

  10. Re:Well... by Baloroth · · Score: 2

    Oh hey look you made another account to goatse /. with. Good job.

    --
    "None can love freedom heartily, but good men; the rest love not freedom, but license." --John Milton
  11. Where does it all come from? by WaffleMonster · · Score: 3, Funny

    I was under the impression the complete DNA sequence for a human can be stored on an ordinary CD.

    Given the amount of data mentioned in TFA it it begs the question what the hell are they sequencing? The genome of everyone on the planet?

    1. Re:Where does it all come from? by Punchcardz · · Score: 2

      This is true, but doesn't really capture the types of experiments that are being done in many cases. Yes, your genome can be stored on a CD. However, next gen sequencing is usually done with a high degree of overlapping coverage, to catch any mistakes in the sequencing, which is still basically a biochemical process despite geting large text files as the end result. So any genome is sequenced multiple times: say 8x coverage as fairly standard. That is if you are interested in sequencing a single genome. If you are interested in sequencing all the mRNAs that tell you which genes are active in which tissue and cell type, expect that you need to do a similar amount of sequencing for each tissue and cell type in the human body. Now imagine doing that with different experimental conditions: disease states, environmental factors etc. Of course, on top of that, you will need replicates of each experimental condition in order to have statistical power to say anything meaningful. On top of that there is the sequencing that you can do to identify differences in the epigenome: how the DNA is marked with things like methyl-groups, how it is wrapped around histones, all of which we are finding has a huge functional difference. Having the a genome sequence is a lot like having the total word list of the english language. It is huge and powerful, but there is a lot more information you need before you can write Shakespeare.

  12. Re:Work! by Anonymous Coward · · Score: 3, Funny

    I see an opportunity for work, and jobs.

    Wozniak. He is called Wozniak. But opportunity will have to wait, because Jobs is dead. Sorry to break it to you like this.

    Come on, every story has an Apple angle, if you look at it the right way.. in fact, I bet those researchers could store all that data on an iPod if they wanted! You can plug it right in and sync with iTunes!

  13. Your genome will fit conveniently on a CD. by bhspencer · · Score: 2

    From the article "three billion bases of DNA in a set of human chromosomes". A base may hold 1 of 4 values A, C, G and T. So each base can be represented with 2 bits. 2 bits * 3 billion = 750MB.

    1. Re:Your genome will fit conveniently on a CD. by Daniel_Staal · · Score: 2

      That's human genomes.

      They are also sequencing plants, and (other) animals, and fungus, and bacteria, and viruses, and...

      --
      'Sensible' is a curse word.
  14. diff by dabridgham · · Score: 2

    Someone needs to introduce these researchers to the 'diff' program.

  15. Drops in NGS Costs Outpacing Storage Costs by Anonymous Coward · · Score: 4, Informative

    The big problem is that the dramatic decreases in sequencing costs driven by next-gen sequencing (in particular the Illumina HiSeq 2000, which produces in excess of 2TB of raw data per run) have outpaced the decreases in storage costs. We're getting to the point where storing the data is going to be more expensive than sequencing it. I'm a grad student working in a lab with 2 of the HiSeqs (thank you HHMI!) and our 300TB HP Extreme Storage array (not exactly "extreme" in our eyes) is barely keeping up (on top of the problems were having with datacenter space, power, and cooling).

    I'll reference an earlier /. post about this:
    http://science.slashdot.org/story/11/03/06/1533249/graphs-show-costs-of-dna-sequencing-falling-fast

    There are some solutions to the storage problems such as Goby (http://campagnelab.org/software/goby/) but those require additional compute time, and we're already stressing our compute cluster as is. Solutions like "the cloud(!)" don't help much when you 10TB of data to transfer just to start the analysis - the connectivity just isn't there.

    1. Re:Drops in NGS Costs Outpacing Storage Costs by Daniel+Dvorkin · · Score: 2

      What is in that 2TB of data? A human genome only takes up 750MB. (A base may hold 1 of 4 values A, C, G and T. So each base can be represented with 2 bits. 2 bits * 3 billion = 750MB)

      What you get out of next-gen sequencing isn't actually the sequence of a genome; it's the sequences of a bunch of fragments, each of which has to be resequenced several times (8 or 16 is the current standard, so you'll hear about "8x sequencing" for example; anything less than 4x sequencing is considered so unreliable as to be worthless, and even 16x may not really be enough) to reduce the number of read and assembly errors to an acceptable level. And although the final "consensus sequence" which is the outcome of this process can indeed be stored in 750MB, or considerably less with good compression, the original data still has to be kept around somewhere in order to reproduce the work.

      --
      The correlation between ignorance of statistics and using "correlation is not causation" as an argument is close to 1.
  16. Re:ASCII storage? by Samantha+Wright · · Score: 3, Informative

    ASCII storage of nucleotide and protein information is actually very standard. The most widespread format is called FASTA, named after the fast alignment program that introduced it. When you sequence a whole genome on a second-generation sequencing platform (like Illumina or SOLiD), there's a step in the process where you end up with a huge (10-100 GB) text file containing little puzzle pieces of DNA that must then be assembled by a specialized program. These files usually don't hang around very long, but the point of keeping them in this inefficient storage format is, simply, performance: CPUs are oriented toward byte-based computing at a minimum, and so frequent compression/decompression becomes prohibitively inefficient.

    Big biotechnology purchases are typically hundreds of thousands of dollars though, so most labs are used to shelling out for this kind of price bracket.

    --
    Bio questions? Ask me to start a Q&A journal. Computer analogies available for most topics!
  17. Re:Work! by Samantha+Wright · · Score: 2

    Bioinformatics is indeed a very lucrative profession, but few programmers have the willingness to memorize the huge canon of data while they're in college that is required to be proficient in it. The curriculum is about 70% computer science and 30% life sciences, including organic chemistry at some universities.

    --
    Bio questions? Ask me to start a Q&A journal. Computer analogies available for most topics!
  18. AI by slyrat · · Score: 2

    This seems like just the kind of problem that AI will help with narrowing the field of 'interesting' things to look at. Either that or better ways to search through the data that is available along with better ways to store said data will probably work.

  19. Reminded of a Parallel Computing Problem by wbtittle · · Score: 2

    Way back in 1993, I visited an atomic laboratory in Pennsylvania. On the tour, they showed us the 30,000 core computing machine they had purchased several years before. "We still can't program it".

    30 seconds later he pointed to the next piece of metal.

    This is our 120,000 core computer.

    I raised my hand "Why did you buy a 120,000 core machine when you can't even program the 30,000 core machine!"

    "Well it's faster."

    one of my early lessons in big companies attacking the wrong problem.

    --
    God: "I don't leave footprints!"
  20. Is it a searching problem? by camh · · Score: 2

    A couple of researchers in Sydney think they've got a model for searching the genoma much more efficiently. They're trying to fund their research and development with crowdsourcing: http://rockethub.com/projects/4065-a-gps-for-the-genome : "The PASTE project [is] based on a new number system we call Permutahedral Indexing - P.I. for short, an N-dimensional map that efficiently locates and interrelates complex datasets in the space of all possible data. P.I. does this efficiently even when the data has hundreds of independent dimensions and comes in petabytes and exabytes."
    They don't seem to need much money in the scheme of things - I might just throw in $25.

  21. Re:So, create a public DNA museum of sequences by Samantha+Wright · · Score: 2

    Done: NCBI, DDBJ, and Ensembl all perform that role. The problem is what to do with all of it.

    --
    Bio questions? Ask me to start a Q&A journal. Computer analogies available for most topics!
  22. Compress at the level of PROTEINS by wisebabo · · Score: 2

    So, why can't they compress the data at the level of proteins? I mean it takes thousands of DNA base pairs to code for 1 protein, like hemoglobin, so instead of storing all that just say "here is the DNA sequence for protein X". Any exceptions, like mutations could then be indicated as "at position 758, the A is replaced by a G".

    Of course if there is something REALLY novel, like a bioengineered virus that used different (non-standard) 3 base pair codons to encode the same amino acid, this kind of data compression wouldn't work but for 99.9999% of "natural" cases it would. (I saw this idea in the tv series "regenesis"). So for these (hopefully rare, it was for a bio-weapon!) cases a different type of compression would be used. "My" compression algorithm would, of course, break which would be a good indication this wasn't a natural DNA sequence.

    I am neither a bio-expert nor a compression expert but this seems to me to be similar to the problem of compressing a vast library of books. Is it best to compress at the level of letters, words or even sentences? I'm only guessing what this entails because I'm not a linguist either! :(

    (Then there's the whole business of introns or exons which "seem" to be content/protein free but I understand contain lots of regulatory information despite their repetitive nature. I would imagine these could be handled by some sort of pattern RLE.)

  23. It's not the data by thisisauniqueid · · Score: 3, Insightful

    It's not that there's too much data to store. There's too much to analyze. Storing 1M genomes is tractable today. Doing a pairwise comparison of 1M genomes requires half a trillion whole-genome comparisons. Even Google doesn't compute on that scale yet. (Disclaimer: I'm a postdoc in computational biology.)

  24. TEDx Talk on the Subject by rockmuelle · · Score: 3, Informative

    I did a talk on this a few years back at TEDx Austin (shameless self promotion): http://www.youtube.com/watch?v=8C-8j4Zhxlc

    I still deal with this on a daily basis and it's a real challenge. Next-generation sequencing instruments are amazing tools and are truly transforming biology. However, the basic science of genomics will always be data intensive. Sequencing depth (the amount of data that needs to be collected) is driven primarily by the fact that genomes are large (e. coli has around 5 M bases in it's genome, humans have around 3 billion) and biology is noisy. Genomes must be over-sampled to produce useful results. For example, detecting variants in a genome requires 15-30x coverage. For a human, this equates to 45-90 Gbases or raw sequence data, which is roughly 45-90 GB of stored data for a single experiment.

    The two common solutions I've noticed mentioned often in this thread, compression and clouds, are promising, but not yet practical in all situations. Compression helps save on storage, but almost every tool works on ASCII data, so there's always a time penalty when accessing the data. The formats of record for genomic sequences are also all ASCII (fasta, and more recently fastq), so it will be a while, if ever, before binary formats become standard.

    The grid/cloud is a promising future solution, but there are still some barriers. Moving a few hundred gigs of data to the cloud is non-trivial over most networks (yes, those lucky enough to have Internet2 connections can do it better, assuming the bio building has a line running to it) and, despite the marketing hype, Amazon does not like it when you send disks. It's also cheaper to host your own hardware if you're generating tens or hundreds of terabytes. 40 TB on Amazon costs roughly $80k a year whereas 40 TB on an HPC storage system is roughly $60k total (assuming you're buying 200+ TB, which is not uncommon). Even adding an admin and using 3 years' depreciation, it's cheaper to have your own storage. The compute needs are rather modest as most sequencing applications are I/O bound - a few high memory (64 GB) nodes are all that's usually needed.

    Keep in mind, too, that we're asking biologists to do this. Many biologists got into biology because they didn't like math and computers. Prior to next-generation sequencing, most biological computation happened in calculators and lab notebooks.

    Needless to say, this is a very fun time to be a computer scientist working in the field.

    -Chris

  25. The problem isn't completed genomes... by Vornzog · · Score: 2

    Though, there is quite a lot of that being generated these days.

    The problem is the *raw* data - the files that come directly off of the sequencing instruments.

    When we sequenced the human genome, everything came off the instrument as a 'trace file' - 4 different color traces, one representing a fluorescent dye for each base. These files are larger than text, but you store the data on your local hard drive and do the base calling and assembly on a desktop or beefy laptop by today's standards.

    2nd gen sequencers (Illumina, 454, etc) take images, and a lot of them, generating many GB of data for even small runs. The information is lower quality, but there is a lot more of it. You need a nice storage solution and a workstation grade computer to realistically analyze this data.

    3rd gen sequencers are just coming out, and they don't take pictures - they take movies with very high frame rates. Single molecule residence time frame rates. Typically, you don't store the rawest data - the instrument interprets it before the data gets saved out for analysis. You need high end network attached storage solutions to store even the 'interpreted' raw data, and you'd better start thinking about a cluster as an analysis platform.

    This is what the article is really about - do you keep your raw 2nd and 3rd gen data? If you are doing one genome, sure! why not? If you are a genome center running these machines all the time, you just can't afford to do that, though. No one can really - the monetary value of the raw data is pretty low, you aren't going to get much new out of it once you've analyzed it, and your lab techs are gearing up to run the instrument again overnight...

    The trick is that this puts you at odds with data retention policies that were written at a time when you could afford to retain all of your data...

    --

    -V-

    Who can decide a priori? Nobody.
    -Sartre

  26. the pell mell fullness of time by epine · · Score: 2

    640K will always be enough!

    Yeah, back when Slashdot ran at 2400 bps, the comment limit was shorter than Twitter. But not to worry, like the Witnesses, the "great crowd" with seven-digit UIDs are relegated to a paradise on earth.

    I have to say in 1981 making those decisions I felt like I was providing enough freedom for ten years, that is the move from 64K to 640K felt like something that would last a great deal of time.

    The complaints as Gates recalls began in five years. He was off by a factor of two. I remember 1981 clear as day. There was hardly a baseline by which to judge the trajectory of the home computer. A monochrome 80 column display with mixed case was state of the art. By the end of 1982, the PC was selling a decimal order of magnitude faster than IBM projected, which put a whole different spin on enough. Volume drove down cost, and lower cost made eyes bigger sooner than almost anyone guessed.

    I've read a lot from Gates over the years. Arrogant in most regards, but rarely stupid. Gates might have had the sentiment that a 0.33 MIPS processor didn't need 16MB of system memory, and figured that the memory limit would be addressed in a less anemic platform in the fullness of time. No-one in 1981 thought that 8088 byte code would still reign supreme thirty years later, any more than COBOL programmers in the 1960s worried about Y2K.

    There's Plenty of Room at the Bottom as capiced already in 1959.

    I don't really see a problem here. We have more than enough storage for the amount of analysis we're able to do. It's a short term nuisance that we have to invest some resources in being a little more selective in what we save, until storage or analysis catches up again.

    There are some applications of genetics where the error component is the signal you're looking for. These methods are less forgiving of lossy synopsis. There might be room for some improvements to storage and compression algorithms in this space.