Full Genome Sequencing

From Omics.org

Full genome sequencing (FGS), also known as whole genome sequencing, complete genome sequencing, or entire genome sequencing, is a laboratory process that determines the complete DNA sequence of an organism's genome at a single time.

This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria or chloroplast, depending respectively on whether the organism is an animal or plant. Almost any biological sample—even a very small amount of DNA or ancient DNA—can provide the genetic material necessary for full genome sequencing. Such samples may include saliva, epithelial cells, bone marrow, hair (as long as the hair contains a hair follicle), seeds, plant leaves, or anything else that has DNA-containing cells. Because the sequence data that is produced can be quite large (for example, there are approximately six billion base pairs in each human diploid genome), genomic data is stored electronically and requires a large amount of computing power and storage capacity. Full genome sequencing would have been nearly impossible before the advent of the microprocessor, computers, and the Information Age.

Full genome sequencing should thus not be confused with DNA profiling. The latter only determines the likelihood that genetic material came from a particular individual or group and does not contain additional information on genetic relationships, origin or suspectability on specific diseases. [1]. It is also distinct from SNP genotyping which covers less than 0.1% of the genome. Almost all truly complete genomes are of microbes, the term "full genome" is sometimes used loosely to mean "greater than 95%". The remainder of this article focuses on nearly complete human genomes.


Full genome sequencing only refers to the laboratory process of deducing a person's entire genetic code and, on its own, may not contain any clinical assessment or useful clinical information. However, this may change over time as a large number of scientific studies continue to be published detailing clear associations between specific genetic variants and disease.[2][3]

The first nearly complete human genomes sequenced were J. Craig Venter's (caucasian male at 7.5-fold average coverage) [4][5][6] and James Watson's (caucasian male at 7.4-fold).[7][8][9], a Han Chinese (YH at 36-fold) [10], a Yoruban from Nigeria (at 30-fold) [11], a female leukemia patient (at 33 and 14-fold coverage for tumor and normal tissues)[12], and Seong-Jin Kim (Korean at 29-fold) [13]. Other full genomes have been sequenced but not published, and as of June 2009, commercialization of full genome sequencing is in an early stage and growing rapidly.


Genome Sequencing Procedure



New techniques

An ABI PRISM 3100 Genetic Analyzer. Sequencers automate the process of sequencing the genome.

One possible way to accomplish the cost-effective high-throughput sequencing necessary to accomplish full genome sequencing is by using Nanopore technology, which is a patented technology held by Harvard University and Oxford Nanopore Technologies and licensed to biotechnology companies.[14] To facilitate their full genome sequencing initiatives, Illumina licensed nanopore sequencing technology from Oxford Nanopore Technologies and Sequenom licensed the technology from Harvard University.[15][16] Another possible way to accomplish cost-effective high-throughput sequencing is by utilizing fluorophore technology. Pacific Biosciences is currently using this approach in their SMRT (single molecule real time) DNA sequencing technology.[17] Complete Genomics is developing DNA Nanoball (DNB) technology that are arranged on self-assembling arrays.[18] Pyrosequencing is a method of DNA sequencing based on the sequencing by synthesis principle.[19] The technique was developed by Pål Nyrén and his student Mostafa Ronaghi at the Royal Institute of Technology in Stockholm in 1996,[20][21][22] and is currently being used by 454 Life Sciences in their effort to deliver an affordable, fast and highly accurate full genome sequencing platform.[23]


Older techniques

Full genome sequencing of the entire human genome was first accomplished in 2000 partly through the use of shotgun sequencing technology. While full genome shotgun sequencing for small (4000–7000 base pair) genomes was already in use in 1979,[24] broader application benefited from pairwise end sequencing, known colloquially as double-barrel shotgun sequencing. As sequencing projects began to take on longer and more complicated genomes, multiple groups began to realize that useful information could be obtained by sequencing both ends of a fragment of DNA. Although sequencing both ends of the same fragment and keeping track of the paired data was more cumbersome than sequencing a single end of two distinct fragments, the knowledge that the two sequences were oriented in opposite directions and were about the length of a fragment apart from each other was valuable in reconstructing the sequence of the original target fragment.

The first published description of the use of paired ends was in 1990 as part of the sequencing of the human HPRT locus,[25] although the use of paired ends was limited to closing gaps after the application of a traditional shotgun sequencing approach. The first theoretical description of a pure pairwise end sequencing strategy, assuming fragments of constant length, was in 1991.[26] In 1995 Roach et al.introduced the innovation of using fragments of varying sizes,[27] and demonstrated that a pure pairwise end-sequencing strategy would be possible on large targets. The strategy was subsequently adopted by The Institute for Genomic Research (TIGR) to sequence the entire genome of the bacterium Haemophilus influenzae in 1995,[28] and then by Celera Genomics to sequence the entire fruit fly genome in 2000,[29] and subsequently the entire human genome. Applied Biosystems, now called Life Technologies, manufactured the shotgun sequencers utilized by both Celera Genomics and The Human Genome Project.

While shotgun sequencing was one of the first approaches utilized to successfully sequence the full genome of a human, it is too expensive and requires too long of a turn-around-time to be utilized for commercial purposes. Because of this, shotgun sequencing technology, even though it is still relatively 'new', is being displaced by technologies like pyrosequencing, SMRT sequencing, and nanopore technology.[30]



Race to commercialization

In October 2006, the X Prize Foundation, working in collaboration with the J. Craig Venter Science Foundation, established the Archon X Prize for Genomics,[31] intending to award US$10 million to "the first Team that can build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome."[32] However, higher accuracy rates (or confirmatory methods) are desirable for some clinical applications. An error rate of 1 in 100,000 bases, out of a total of six billion bases in the human diploid genome, would mean about 60,000 errors per genome, which is a significant number of false positives and negatives. For the latter it is not known where the errors occur . The error rates required for widespread clinical use, such as Predictive Medicine[33] is currently set by over 1400 clinical single gene sequencing tests [34] (for example, errors in BRCA1 gene for breast cancer risk analysis). As of June 2009, the Archon X Prize for Genomics remains unclaimed.

In 2007, Applied Biosystems started selling a new type of sequencer called SOLiD System, with the first sale to Helicos Biosciences in 2008.[35] Helicos stated that, utilizing the new sequencers, they will attempt to provide a full genome sequencing service with a target price of $72,000 per sample.[36] However, this price point is still too high some applications, and is only competitive to DNA arrays (at $500 per sample) in cases where more than 0.1% of the genome is desired.

In 2008 and 2009, both public and private companies have emerged that are now in a competitive race to be the first mover to provide a full genome sequencing platform that is commercially robust for both research and clinical use,[37] including Illumina,[38] Sequenom,[39] 454 Life Sciences,[40] Pacific Biosciences,[41] Complete Genomics,[42] Intelligent Bio-Systems,[43] Genome Corp.,[44] and Helicos BioScience[45]. These companies are heavily financed and backed by venture capitalists, hedge funds, investment banks and, in the case of Illumina, Sequenom and 454, heavy re-investment of revenue into research and development, mergers and acquisitions, and licensing initiatives.[46][47][48]

In the race to commercialize full genome sequencing, companies have made claims about being able to offer a service at a specific time for a specific price that have turned out to not be true. Intelligent Bio-Systems stated in November 2007 that by the end of 2008 they would release a platform capable of a providing a $5,000 full genome sequence, but, as of March 2009, no such platform has yet to be released.[49]

Pacific Biosciences stated that they will start selling their full genome sequencers in early 2010. While they didn't disclose the cost to sequence a single genome, they did state they may not release their second-generation machine capable of a $1,000 genome until 2013.[36] Complete Genomics, however, stated that they'll be able to provide a $5,000 full genome sequencing service by the summer of 2009.[50] The accuracy, precision, and reproducibility of both Pacific Biosciences and Complete Genomics technology, however, is still unknown.

A personal genomics company located in Massachusetts, Knome.com, currently provides genome sequencing services but the cost is about $99,500 per genome (down from $350,000 per genome initially),[51] the turn-around time is unknown, the accuracy is unknown, and the number of people was limited to 20 for the first year, and is still considered early stage commercialization of full genome sequencing, focusing on wealthy customers.[52]

As of January 2009, there are no indications that any of these companies have been hindered by the global recession. And thus, the race appears to be proceeding forward at full speed. [53]

At the end of February 2009, Complete Genomics released a full sequence of a human genome that was sequenced using their service. The data indicates that Complete Genomics' full genome sequencing service accuracy is just under 99.99%, meaning that there is an error in one out of every ten thousand base pairs. This means that their full sequence of the human genome will contain approximately 80,000-100,000 false positive errors in each genome. However, this accuracy rate was based on Complete Genomics' sequence that was completed utilizing a 90x depth of coverage (each base in the genome was sequenced 90 times) while their commercialized sequence is reported to be only 40x, so the accuracy may be substantially lower unless they can find some way to improve it before their first service release planned for the summer 2009. This accuracy rate may be acceptable for research purposes, and clinical use would require confirmation by other methods of any reportable alleles.[54][55] In March 2009, it was announced that Complete Genomics has signed a deal with the Broad Institute to sequence cancer patient's genomes and will be sequencing five full genomes to start.[56] In April 2009, Complete Genomics announced that it plans to sequence 1,000 full genome's between June 2009 and the end of the year and that they plan to be able to sequence one million full genomes per year by 2013.[57] Complete Genomics plans to officially launch in June 2009, although it is unknown if their lab will have received CLIA-certification by that time.

In June 2009, Illumina announced that they were launching their own Personal Full Genome Sequencing Service at a depth of 30X for $48,000 per genome.[58] This is still expensive for widespread consumer use, but the price may decrease substantially over the next few years as they realize economies of scale and given the competition with other companies such as Complete Genomics.[59][60] Jay Flatley, Illumina's President & CEO, stated that "during the next five years, perhaps markedly sooner," the price point for full genome sequencing will fall from $48,000 to under $1,000.[61] Illumina has already signed agreements to supply full genome sequencing services to multiple direct-to-consumer personal genomics companies.


Disruptive technology

Full genome sequencing provides information on a genome that is orders of magnitude larger than that provided by the current leader in sequencing technology, DNA arrays. For humans, DNA arrays currently provides genotypic information on up to one million genetic variants,[62][63][64] while full genome sequencing will provide information on all six billion bases in the human genome, or 3,000 times more data. Because of this, full genome sequencing is considered disruptive to the DNA array markets as the accuracy of both range from 99.98% to 99.999% (in non-repetitive DNA regions) and their cost of $5000 per 6 billion base pairs is competitive (for some applications) with DNA arrays ($500 per 1 million basepairs).[40] Agilent, another established DNA array manufacturer, is working on targeted (selective region) genome sequencing technologies[65]. It is thought that Affymetrix, the pioneer of array technology in the 1990s, has fallen behind due to significant corporate and stock turbulence and is currently not working on any known full genome sequencing approach.[66][67][68] It is unknown what will happen to the DNA array market once full genome sequencing becomes commercially widespread, especially as companies and laboratories providing this disruptive technology start to realize economies of scale. It is postulated, however, that this new technology may significantly diminish the total market size for arrays and any other sequencing technology once it becomes commonplace for individuals and newborns to have their full genomes sequenced.[69]


Societal impact

Inexpensive, time-efficient full genome sequencing will be a major accomplishment not only for the field of Genomics, but for the entire human civilization because, for the first time, individuals will be able to have their entire genome sequenced. Utilizing this information, it is speculated that health care professionals, such as physicians and genetic counselors, will eventually be able to use genomic information to predict what diseases a person may get in the future and attempt to either minimize the impact of that disease or avoid it altogether through the implementation of personalized, preventive medicine. Full genome sequencing will allow health care professionals to analyze the entire human genome of an individual and therefore detect all disease-related genetic variants, regardless of the genetic variant's prevalence or frequency. This will enable the rapidly emerging medical fields of Predictive Medicine and Personalized Medicine and will mark a significant leap forward for the clinical genetic revolution. Full genome sequencing is clearly of great importance for research into the basis of genetic disease. However, it should be recognized that despite advancements in genome sequencing technology, incomplete understanding of the significance of individual variants or combinations of variants will limit the widespread usefulness of full genome sequencing in medicine until its clinical utility can be demonstrated.

Illumina's CEO, Jay Flatley, stated in February 2009 that "A complete DNA read-out for every newborn will be technically feasible and affordable in less than five years, promising a revolution in healthcare" and that "by 2019 it will have become routine to map infants' genes when they are born."[70] However, this potential use of genome sequencing runs counter to established norms for genetic testing of asymptomatic minors that have been well established in the field of genetic counseling.[71][72][73][74]


See also

  • DNA microarray
  • DNA profiling
  • Medical genetics
  • Human Genome Project
  • Personal Genome Project
  • List of sequenced eukaryotic genomes
  • List of sequenced bacterial genomes
  • List of sequenced archaeal genomes


  1. ^ Kijk magazine, 01 January 2009
  2. ^ "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature 447 (7145): 661–78. June 2007. doi:10.1038/nature05911. PMID 17554300. 
  3. ^ Mailman MD, Feolo M, Jin Y, Kimura M, Tryka K, Bagoutdinov R, Hao L, Kiang A, Paschall J, Phan L, Popova N, Pretel S, Ziyabari L, Lee M, Shao Y, Wang ZY, Sirotkin K, Ward M, Kholodov M, Zbicz K, Beck J, Kimelman M, Shevelev S, Preuss D, Yaschenko E, Graeff A, Ostell J, Sherry ST (October 2007). "The NCBI dbGaP database of genotypes and phenotypes". Nat. Genet. 39 (10): 1181–6. doi:10.1038/ng1007-1181. PMID 17898773. 
  4. ^ Wade, Nicholas (September 4, 2007). "In the Genome Race, the Sequel Is Personal". New York Times. http://www.nytimes.com/2007/09/04/science/04vent.html. Retrieved on February 22, 2009. 
  5. ^ Nature. "Access : All about Craig: the first 'full' genome sequence". Nature. http://www.nature.com/nature/journal/v449/n7158/full/449006a.html. Retrieved on 2009-02-24. 
  6. ^ Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC (September 2007). "The diploid genome sequence of an individual human". PLoS Biol. 5 (10): e254. doi:10.1371/journal.pbio.0050254. PMID 17803354. 
  7. ^ Wade, Wade (June 1, 2007). "DNA pioneer Watson gets own genome map". International Herald Tribune. http://www.iht.com/articles/2007/06/01/america/dna.php. Retrieved on February 22, 2009. 
  8. ^ Wade, Nicholas (May 31, 2007). "Genome of DNA Pioneer Is Deciphered". New York Times. http://www.nytimes.com/2007/05/31/science/31cnd-gene.html. Retrieved on February 21, 2009. 
  9. ^ Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. (2008). "The complete genome of an individual by massively parallel DNA sequencing". Nature 452: 872–6.. PMID 18421352. 
  10. ^ Wang J, et al. (2008). "The diploid genome sequence of an Asian individual". Nature 456: 60–65. PMID 18987735. 
  11. ^ Bentley DR, Balasubramanian S, et al. (2008). "Accurate whole human genome sequencing using reversible terminator chemistry". Nature 456: 53–9. PMID 18987734. 
  12. ^ Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK. (2008). "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome". Nature 456: 66–72. PMID 18987736. 
  13. ^ Ahn SM, Kim TH, Lee S, Kim D, Ghang H, Kim D, Kim BC, Kim SY, Kim WY, Kim C, Park D, Lee YS, Kim S, Reja R, Jho S, Kim CG, Cha JY, Kim KH, Lee B, Bhak J, Kim SJ (2009). "The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group". Genome Research. PMID 19470904. 
  14. ^ "Harvard University and Oxford Nanopore Technologies Announce Licence Agreement to Advance Nanopore DNA Sequencing and other Applications". Nanotechwire. August 5, 2008. http://www.nanotechwire.com/news.asp?nid=6428. Retrieved on February 23, 2009. 
  15. ^ "Illumina and Oxford Nanopore Enter into Broad Commercialization Agreement". Reuters. January 12, 2009. http://www.reuters.com/article/pressRelease/idUS49869+12-Jan-2009+BW20090112. Retrieved on February 23, 2009. 
  16. ^ http://www..com/sequenom-licenses-nanopore-technology-harvard-develop-third-generation-sequencer
  17. ^ "Single Molecule Real Time (SMRT) DNA Sequencing". Pacific Biosciences. http://www.pacificbiosciences.com/index.php?q=technology-introduction. Retrieved on February 23, 2009. 
  18. ^ "Complete Human Genome Sequencing Technology Overview". Complete Genomics. 2009. http://www.completegenomicsinc.com/pages/materials/CompleteGenomicsTechnologyPaper.pdf. Retrieved on February 23, 2009. 
  19. ^ "Definition of pyrosequencing from the Nature Reviews Genetics Glossary". http://www.nature.com/nrg/journal/v6/n11/glossary/nrg1709_glossary.html. Retrieved on 2008-10-28. 
  20. ^ Ronaghi M, Uhlén M, Nyrén P (July 1998). "A sequencing method based on real-time pyrophosphate". Science (journal) 281 (5375): 363, 365. doi:10.1126/science.281.5375.363. PMID 9705713. 
  21. ^ Ronaghi M, Karamohamed S, Pettersson B, Uhlén M, Nyrén P (November 1996). "Real-time DNA sequencing using detection of pyrophosphate release". Anal. Biochem. 242 (1): 84–9. doi:10.1006/abio.1996.0432. PMID 8923969. 
  22. ^ Nyrén P (2007). "The history of pyrosequencing". Methods Mol. Biol. 373: 1–14. PMID 17185753. 
  23. ^ http://files.shareholder.com/downloads/CRGN/0x0x53381/386c4aaa-f36e-4b7a-9ff0-c06e61fad31f/211559.pdf
  24. ^ Staden R (June 1979). "A strategy of DNA sequencing employing computer programs". Nucleic Acids Res. 6 (7): 2601–10. PMID 461197. PMC: 327874. http://nar.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=461197. 
  25. ^ Edwards, A; Caskey, T (1991). "Closure strategies for random DNA sequencing". Methods: A Companion to Methods in Enzymology 3 (1): 41–47. doi:10.1016/S1046-2023(05)80162-8. 
  26. ^ Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W (April 1990). "Automated DNA sequencing of the human HPRT locus". Genomics 6 (4): 593–608. doi:10.1016/0888-7543(90)90493-E. PMID 2341149. 
  27. ^ Roach JC, Boysen C, Wang K, Hood L (March 1995). "Pairwise end sequencing: a unified approach to genomic mapping and sequencing". Genomics 26 (2): 345–53. doi:10.1016/0888-7543(95)80219-C. PMID 7601461. 
  28. ^ Fleischmann RD, Adams MD, White O, Clayton RA, Kirkness EF, Kerlavage AR, Bult CJ, Tomb JF, Dougherty BA, Merrick JM (July 1995). "Whole-genome random sequencing and assembly of Haemophilus influenzae Rd". Science (journal) 269 (5223): 496–512. doi:10.1126/science.7542800. PMID 7542800. 
  29. ^ Adams, MD; et al. (2000). "The genome sequence of Drosophila melanogaster". Science 287 (5461): 2185–95. doi:10.1126/science.287.5461.2185. PMID 10731132. 
  30. ^ Mukhopadhyay R (February 2009). "DNA sequencers: the next generation". Anal. Chem.. doi:10.1021/ac802712u. PMID 19193124. 
  31. ^ Carlson, Rob (2007-01-02). "A Few Thoughts on Rapid Genome Sequencing and The Archon Prize - synthesis". Synthesis.cc. http://synthesis.cc/2007/01/a-few-thoughts-on-rapid-genome-sequencing-and-the-archon-prize.html. Retrieved on 2009-02-23. 
  32. ^ "PRIZE Overview: Archon X PRIZE for Genomics".
  33. ^ Bentley DR (December 2006). "Whole-genome re-sequencing". Curr. Opin. Genet. Dev. 16 (6): 545–52. doi:10.1016/j.gde.2006.10.009. PMID 17055251. 
  34. ^ "GeneTests.org". http://genetests.org. 
  35. ^ "SOLiD System - a next-gen DNA sequencing platform announced". Gizmag.com. 2007-10-27. http://www.gizmag.com/go/8248/. Retrieved on 2009-02-24. 
  36. ^ a b http://www.nytimes.com/2008/02/09/business/09genome.html?pagewanted=print
  37. ^ "Article : Race to Cut Whole Genome Sequencing Costs Genetic Engineering & Biotechnology News - Biotechnology from Bench to Business". Genengnews.com. http://www.genengnews.com/articles/chitem.aspx?aid=939&chid=1. Retrieved on 2009-02-23. 
  38. ^ "Whole Genome Sequencing Costs Continue to Drop". Eyeondna.com. http://www.eyeondna.com/2008/02/11/whole-genome-sequencing-costs-continue-to-drop/. Retrieved on 2009-02-23. 
  39. ^ San Diego/Orange County Technology News. "Sequenom to Develop Third-Generation Nanopore-Based Single Molecule Sequencing Technology". Freshnews.com. http://www.freshnews.com/news/biotech-biomedical/article_39927.html. Retrieved on 2009-02-24. 
  40. ^ a b "Article : Whole Genome Sequencing in 24 Hours Genetic Engineering & Biotechnology News - Biotechnology from Bench to Business". Genengnews.com. http://www.genengnews.com/articles/chitem.aspx?aid=658&chid=2. Retrieved on 2009-02-23. 
  41. ^ "Pacific Bio lifts the veil on its high-speed genome-sequencing effort". VentureBeat. http://venturebeat.com/2008/02/10/pacific-bio-lifts-the-veil-on-its-high-speed-genome-sequencing-effort/. Retrieved on 2009-02-23. 
  42. ^ "Bio-IT World". Bio-IT World. 2008-10-06. http://www.bio-itworld.com/headlines/2008/oct06/complete-genomics-dna-nanoballs.html. Retrieved on 2009-02-23. 
  43. ^ http://nextbigfuture.com/2008/03/genome-sequencing-costs-continue-to.html
  44. ^ http://www.pbn.com/stories/29333.html
  45. ^ http://www.xconomy.com/boston/2008/04/22/with-new-machine-helicos-brings-personal-genome-sequencing-a-step-closer/
  46. ^ July 14, 2008 — 11:19am ET (2008-07-14). "Pacific Biosciences gains $100M for sequencing tech". FierceBiotech. http://www.fiercebiotech.com/story/pacific-biosciences-garners-100m-sequencing-tech/2008-07-14. Retrieved on 2009-02-23. 
  47. ^ "Complete Genomics brings radical reduction in cost - Silicon Valley / San Jose Business Journal:". Sanjose.bizjournals.com. http://sanjose.bizjournals.com/sanjose/stories/2009/02/09/story1.html?b=1234155600^1773923. Retrieved on 2009-02-23. 
  48. ^ "Bio-IT World". Bio-IT World. http://www.bio-itworld.com/issues/2007/nov/sequenom-nanopore-technology/. Retrieved on 2009-02-24. 
  49. ^ http://venturebeat.com/tag/cointelligent-bio-systems/
  50. ^ "Five Thousand Bucks for Your Genome". Technology Review. 2008-10-20. http://www.technologyreview.com/biomedicine/21466/. Retrieved on 2009-02-23. 
  51. ^ Complete Genomics Drives Down Cost of Genome Sequence to $5,000
  52. ^ 28 January 2008 (2008-01-28). "Premium genome mapping service: Knome". Springwise. http://springwise.com/lifestyle_leisure/premium_genome_mapping_service/. Retrieved on 2009-02-23. 
  53. ^ http://www.twine.com/item/11rf6j5mx-84/technology-review-recession-resistant-medicine
  54. ^ http://www.completegenomics.com/dataRelease/sequencingResults.aspx
  55. ^ http://scienceblogs.com/geneticfuture/2009/03/broad_institute_complete_genomics.php
  56. ^ http://www.bio-itworld.com/news/03/03/09/complete-genomic-broad-institute-cancer-collaboration.html
  57. ^ http://news.bbc.co.uk/2/hi/health/7954968.stm
  58. ^ http://www.everygenome.com
  59. ^ http://news.moneycentral.msn.com/provider/providerarticle.aspx?feed=BW&date=20090610&id=9999448
  60. ^ http://scienceblogs.com/geneticfuture/2009/06/illumina_launches_personal_gen.php
  61. ^ http://mobihealthnews.com/2658/illumina-demos-concept-iphone-app-for-genetic-data-sharing/
  62. ^ "Genomics Core". Gladstone.ucsf.edu. http://www.gladstone.ucsf.edu/gladstone/site/genomicscore/section/1919. Retrieved on 2009-02-23. 
  63. ^ Nishida N, Koike A, Tajima A, Ogasawara Y, Ishibashi Y, Uehara Y, Inoue I, Tokunaga K (2008). "Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals". BMC Genomics 9: 431. doi:10.1186/1471-2164-9-431. PMID 18803882. 
  64. ^ Petrone, Justin. "Illumina, DeCode Build 1M SNP Chip; Q2 Launch to Coincide with Release of Affy's 6.0 SNP Array | BioArray News | Arrays". GenomeWeb. http://www.genomeweb.com/arrays/illumina-decode-build-1m-snp-chip-q2-launch-coincide-release-affys-60-snp-array. Retrieved on 2009-02-23. 
  65. ^ "Agilent Technologies Announces Licensing Agreement with Broad Institute to Develop Genome-Partitioning Kits to Streamline Next-Generation Sequencing". http://www.chem.agilent.com/en-US/PressReleases/Pages/PRCA08032.aspx. 
  66. ^ "Affymetrix stock slumps 30% on forecast - Sacramento Business Journal:". Sacramento.bizjournals.com. 2008-07-25. http://sacramento.bizjournals.com/sacramento/stories/2008/07/21/daily52.html. Retrieved on 2009-02-23. 
  67. ^ Bluis, John (2006-04-24). "Affymetrix Gets Chipped Again". Fool.com. http://www.fool.com/investing/high-growth/2006/04/24/affymetrix-gets-chipped-again.aspx. Retrieved on 2009-02-23. 
  68. ^ "The chips are down". Nature 444 (7117): 256–7. November 2006. doi:10.1038/444256a. PMID 17108930. 
  69. ^ Coombs A (October 2008). "The sequencing shakeup". Nat. Biotechnol. 26 (10): 1109–12. doi:10.1038/nbt1008-1109. PMID 18846083. 
  70. ^ Henderson, Mark. "Genetic mapping of babies by 2019 will transform preventive medicine". Times Online. http://www.timesonline.co.uk/tol/news/uk/science/article5689052.ece. Retrieved on 2009-02-23. 
  71. ^ McCabe LL, McCabe ER (June 2001). "Postgenomic medicine. Presymptomatic testing for prediction and prevention". Clin Perinatol 28 (2): 425–34. PMID 11499063. 
  72. ^ Nelson RM, Botkjin JR, Kodish ED, et al. (June 2001). "Ethical issues with genetic testing in pediatrics". Pediatrics 107 (6): 1451–5. PMID 11389275. 
  73. ^ Borry P, Fryns JP, Schotsmans P, Dierickx K (February 2006). "Carrier testing in minors: a systematic review of guidelines and position papers". Eur. J. Hum. Genet. 14 (2): 133–8. doi:10.1038/sj.ejhg.5201509. PMID 16267502. 
  74. ^ Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K (November 2006). "Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers". Clin. Genet. 70 (5): 374–81. doi:10.1111/j.1399-0004.2006.00692.x. PMID 17026616. 

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