{bio,medical} informatics
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MSNBC
Chimp genetic code opens human frontiers
"Scientists unleashed a torrent of studies comparing the genetic coding for humans and chimpanzees on Wednesday, reporting that 96 percent of our DNA sequences are identical. Even more intriguingly, the other 4 percent appears to contain clues to how we became different from our closest relatives in the animal kingdom, they said."
"The researchers said the results confirmed the common evolutionary origin of humans and chimpanzees. Out of the 3 billion base pairs in the DNA coding for chimps and humans, about 35 million show single-base differences, and another 5 million DNA sites are different because of insertions or deletions of genetic code. Waterston estimated that 1 million of those coding changes are responsible for the functional differences between humans and chimps — thus defining our humanness."
redux [05.26.04]
"What is the difference between a chimp and a human? There could be a lot more to the answer than scientists thought, according to the first accurate DNA sequence of a chimp chromosome."
"Because chimps and humans appear broadly similar, some have assumed that most of the differences would occur in the large regions of DNA that do not appear to have any obvious function. But that was not the case."
redux [04.05.04]
"A comparison of the chimp and human genomes casts new light on why the two species are so different despite having very similar genetic code."
"One of the leading scientists on the project says the answer lies in the process that orchestrates the genes as the chimpanzee is developing."
"The latest experimental results have solidified evidence of a roughly 10% difference in gene expression from several regions of the brain."
"The researchers have confirmed their findings in four regions of the cerebral cortex, and in the cerebellum and the caudate nucleus. On the other hand, evidence relating to the linear accumulation of differences over time means "we are coming to believe that these are not all functionally relevant," Paabo added."
redux [12.12.03]
[requires 'free' registration]
"In a preliminary screen, Dr. Clark and his colleagues have found that a large number of genes shows signs of accelerated evolution in the human lineage. Those are genes that, by a statistical test applied to changes in their DNA, appear to be under strong recent pressure of natural selection and so are likely to be those that make humans differ from chimpanzees.
A prominent set of accelerated human genes are those involved in hearing, particularly the gene that makes a protein called alpha-tectorin, a component of the tectorial membrane of the inner ear."
"Another group of selected genes is involved in brain development."
redux [12.10.03]
"Researchers today released a draft version of the genetic sequence of our closest relative, the chimpanzee Pan troglodytes .
The differences between the chimp's genetic code and ours should reveal what makes us human, scientists hope. The disparities might, for example, lie in genes that control the development of the brain and language, or of human-specific diseases such as Alzheimer's, AIDS and malaria."
redux [05.20.03]
"Scientists from the Wayne State University, School of Medicine, Detroit, US, examined key genes in humans and several ape species and found our "life code" to be 99.4% the same as chimps.
They propose moving common chimps and another very closely related ape, bonobos, into the genus, Homo, the taxonomic grouping researchers use to classify people in the animal kingdom."
redux [04.29.03]
"By studying chimpanzees, scientists are honing their genetic view of humanity, researchers told this week's meeting of the Human Genome Organisation in Cancun, Mexico."
"The data call for some revision of the estimated genetic similarity between us and our closest relatives. Previously, human and chimp genetic sequences were quoted as being nearly 99% identical, with a difference of only a few DNA's letters. In fact, the similarity may be as low as 94-95%, says Todd Taylor of the RIKEN Genomic Sciences Center in Yokohama, Japan.
redux [03.04.03]
"Chimpanzees seem almost human, and scientists have maintained for decades that chimps are, in fact, 98.5 percent genetically identical to humans.
But the results of a new study call that figure into question, with a finding that there are actually large chunks of the human and chimp genomes that are vastly different."
"It involves sampling data from select regions of many different related species, and then comparing them within the context of their phylogenetic relationships. In the research described in the Science paper, Rubin and colleagues sampled 17 primate species closely related to human and spanning 40 million years of evolution -- insufficient time for significant genetic divergence to have taken place.
According to Rubin, phylogenetic shadowing compensates for the failure of traditional comparative genomics techniques, which "invariably miss recent changes in DNA sequence that account for primate-specific biological traits." The approach overcomes the primary challenge of comparing genomes of closely related species: the difficulty in distinguishing functional from nonfunctional sequences."
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New Scientist
Most scientific papers are probably wrong
"Most published scientific research papers are wrong, according to a new analysis. Assuming that the new paper is itself correct, problems with experimental and statistical methods mean that there is less than a 50% chance that the results of any randomly chosen scientific paper are true.
John Ioannidis, an epidemiologist at the University of Ioannina School of Medicine in Greece, says that small sample sizes, poor study design, researcher bias, and selective reporting and other problems combine to make most research findings false. But even large, well-designed studies are not always right, meaning that scientists and the public have to be wary of reported findings."
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DrugResearcher.Com
Pharma increasingly adopts computational tools
"Increasing adoption of computational biology tools in today’s drug discovery is the industry’s attempt to compensate for shrinking product pipelines as the industry also expects to reduce the duration of the drug discovery process, especially in toxicology and drug efficacy studies."
"Frost and Sullivan's latest report details the increase in royalty and milestone payment agreements, which is strengthening strategic partnerships between computational biology tools vendors and drug discovery companies. This, in turn, is nurturing the faster adoption of these tools in drug discovery.
However, the report was quick to point out that the adoption of these tools were still in the initial stage. As pharmaceutical companies that have invested heavily in computational tools after the Human Genome Project are yet to see any tangible returns, there exists a natural scepticism about their efficacy."
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New Scientist
What if…? Exploring alternative scientific pasts
"Who hasn't wondered what their life would be like today if some past event had turned out differently - that inconsequential decision, for example, that led you to meet the love of your life. Sometimes, small choices change everything. And that is just as true of world history as it is of your personal life.
Time was when the past was seen as a long march towards an inevitable present. But historians have come to realise that the present is anything but inevitable. And so New Scientist asked a panel of experts to speculate on the scientific pasts that might have been. Follow the links below to find out what might have happened if Darwin had not sailed on the Beagle, or Einstein not had his miracle year, as well as many other scenarios."
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DrugResearcher.Com
Report identifies bioinformatics as growth area
"According to a new report, the bioinformatics market is set to surge ahead, boosted by data proliferation and the need for improved drug research productivity. Along with the solid support of national governments, the European bioinformatics industry is expected to go from strength to strength."
"According to the report's authors, Frost & Sullivan, the forecast predicts that the total European bioinformatics market is set to expand from nearly $310 million (€252.8 million) in 2004 to $720 million by 2011."
"The report predicts that while the information manipulation segment will maintain its current revenue contribution levels- about 40 per cent - to the overall market until 2011, the genomics software tools segment is likely to exhibit low growth."
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Genomeweb
Lee Hood Calls Cancer Genome Project Approach ‘Naïve,’ Says Signal-to-Noise Issues Will Confound Efforts
[requires 'free' registration]
"Lee Hood, president of the Institute for Systems Biology, has called the premise of the Cancer Genome Project "naïve," suggesting that signal-to-noise issues its researchers are likely to encounter will be "absolutely enormous.""
Hood said the premise of the project -- as he put it, to sequence "to a certain extent" 250 genomes from four or five cancers with the aim of correlating the genetic differences of a particular cancer -- "is a naïve approach because the signal-to-noise issues ... from sequencing cancer genomes on six or seven dimensions are absolutely enormous.""
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NIH News
Public Collections of DNA and RNA Sequence Reach 100 Gigabases
"For nearly 20 years, the three leading public repositories for DNA and RNA sequence data have collaborated to provide access to the ever increasing amount of genetic data produced by institutions around the world. The three repositories have now reached a significant milestone by collecting and disseminating 100 gigabases of sequence data. For a frame of reference, one hundred billion bases is about equal to the number of nerve cells in a human brain and a bit less than the number of stars in the Milky Way.
These 100,000,000,000 bases, or “letters” of the genetic code, represent both individual genes and partial and complete genomes of over 165,000 organisms.
"Much has changed since the days when sequences were manually keyed in from the literature or sent on floppy disc and distributed to users on 9-track magnetic tapes, but the purpose of the databases — to make every nucleotide sequence in the public domain freely available to the scientific community as rapidly as possible — remains as strong now as it was in the beginning."
redux [03.03.04]
"Ostensibly, the Database and Collections of Information Misappropriation Act (HR3261) makes it a crime for anyone to copy and redistribute a substantial portion of data collected by commercial database companies and list publishers. But critics say the bill would give the companies ownership of facts -- stock quotes, historical health data, sports scores and voter lists. The bill would restrict the kinds of free exchange and shared resources that are essential to an informed citizenry, opponents say."
"An encyclopedia site not only could own the historical facts contained in its online entries, but could do so long after the copyright on authorship of the written entries had expired. Unlike copyright, which expires 70 years after the death of a work's author, the Misappropriation Act doesn't designate an expiration date."
redux [02.05.04]
"John Keller, Incyte's chief business officer, said the vast amount of genetic information available today has made it difficult to sell subscriptions to the company's genomic data product lines."
"Many firms hoped to profit from the mapping of the human genome, which was expected to usher in a new form of personalized medicine able to target potential diseases in individuals before they struck. The field was billed as one of the breakthroughs of the new century. But the human genome field was over-hyped for the near-term, although it may yet prove promising for the future."
redux [01.28.04]
"Many academic scientists see nothing wrong with making their commercial brethren pay for access. After all, they reason, industry has lots of money. Why not make them pay?"
"When you choose the "soak industry" option, you are implicitly expressing the following beliefs: (1) Your database is so useful for drug development that companies will pay handsomely for it. And (2) you're willing to delay the drug developers until the company comes up with the scratch. To hell with the patients who might benefit from the drug in question! Do you really believe this?"
redux [07.07.02]
[requires 'free' registration]
"The blessings of an increasingly advanced digital world are many: faster data processing, massive data storage. But with these newfound capabilities come new questions about ownership. Who owns the mountains of data contained in databases--whether stock prices, real estate values, or countless genome sequences? What intellectual property rights do database creators have? And how much protection is too much? In recent years, a European Union (EU) database directive has brought a sense of urgency to such issues--and some scientists fear that the law has gone too far."
redux [04.12.02]
"In the United States, innovators have traditionally relied on copyright and confidential-information rights to protect their databases. In Europe, however, database owners have a novel weapon in their IP armamentarium: the database right.
But there's a catch: Database innovators must have sufficient nexus with Europe--actually, the European Economic Area, or EEA--in order for their databases to qualify for protection. Perhaps it's time for US database makers to consider how they might create sufficient ties with Europe to benefit from this powerful new IP right."
redux [02.27.02]
"For the scientists working on the Human Genome Project, the data defining who we are is too important to be left to Celera -- or any other company. David Haussler, a team leader at the University of California at Santa Cruz who helped Kent and others put the genome online, expresses the credo of a data liberator succinctly: "Information about the human genome is better in public hands than secretly locked up somewhere."
"But it's not just the research data itself that is at the center of the tug of war between corporations and scientists. When working with data as complex and vast as the human genome, the software tools necessary to manipulate that data are as important as the genetic code itself."
"Analysts tend to value drug companies more favorably than those that sell information, and their response to Confirmant's announcement has been lukewarm.
Other biotech company officials with experience in selling database information said that large, general databases such as the protein atlas might have a challenge in finding a market.
"What we have found out is that people ... want technologies that apply to their specific research," said Lior Ma'ayan, executive vice president of corporate development at Compugen, a biotech company based in Tel Aviv."
redux [03.10.01]
"With information on the genome now rapidly becoming available, the business models for companies that sell information about the genome, such as Celera and Incyte, may soon be outmoded. Biotech companies will then have to earn their stripes the old-fashioned way: by developing blockbuster drugs. Of course, proteomics companies could arise to sell information about proteins to other drug companies, but Strosberg thinks this is a flawed approach. Given his history, he should know. "Incyte's business model," he recalls, "was originally to be an information provider. That period is over. People will not pay as much for information as they used to because so much of it is now publicly available. Information is becoming a commodity." Instead of selling information about proteins, he is focusing Hybrigenics on using its proteomics information to develop drugs, either alone or in partnership with larger pharmaceutical companies."
redux [03.20.02]
[requires 'free' registration]
"The genomics revolution and the Internet have changed science in ways impossible to imagine 20 years ago. Among other advances, these forces have allowed the latest research to be routinely gathered, organized, and disseminated, typically at little or cost, through online biological information databases.
Arduous to use and filled with mostly unanalyzed data early on, these computer databases are now packed with valuable, up-to-date information made easily accessible with improved search engines. They have become so ubiquitous and integral to science today that almost every molecular biologist consults one when initiating research projects. "It would be impossible to do molecular biology properly these days without access to them."
redux [05.09.01]
"It may seem surprising, considering the amount of publicity the Human Genome Project has garnered over the past year, but a recent Wellcome Trust survey indicates that only half of biomedical researchers using genome databases are familiar with the services provided by Ensembl and other freely available options.
Although the number of hits on the Ensembl website has doubled since the publication of the Human Genome Project's findings in Nature in February, a questionnaire sent to 777 individuals funded by the Wellcome Trust found that only 82 used Ensembl regularly, 189 used it occasionally, and only 50 percent of those who used DNA databases regularly used Ensembl at all.
Even more surprising was the finding that of those who didn't use Ensembl, 50 percent had never heard of it.""
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Bio-IT World
Genstruct and Entelos Make Headway on Biological Modeling
"The buzz around biological model-making seems to be growing. Both Genstruct and Entelos, modelers betting on different approaches, announced significant progress points today for themselves and for the systems biology community as a whole.
Founded in 2001, Genstruct achieved the first milestone in a multi-year collaboration with Pfizer, and CEO Keith Elliston says he expects to reach a second milestone in the fall. While Entelos, founded in 1996, ventured outside the drug discovery world by announcing a deal with cosmetics giant Unilever to develop a bi-simulation model for the study of skin allergy."
redux [03.01.04]
[requires 'free' registration]
"Imagine being able to discover the latest blockbuster drug using nothing but a PC and some highly sophisticated software. It's not as far-fetched as it sounds. A growing number of labs--both industrial and academic--are going "in silico," simulating everything from cells to clinical trials. The result is a sea change in pharmaceutical research, with resources once earmarked for bench work now being shunted into central processing unit clock cycles."
redux [09.09.02]
"Consistent with his lifelong reputation as a visionary and provocateur, Brenner challenged a crowd of over 250 bioinformaticists gathered at the Wellcome Trust Genome Campus in Hinxton, UK, to "forget the genome."
"The more you annotate the genome, the more you make it opaque," he warned in a keynote speech delivered at the joint Cold Spring Harbor Laboratory/Wellcome Trust Genome Informatics conference on Saturday. "We need to focus on our cells."
Brenner questioned the ability of computational approaches to derive functional knowledge from genomic sequence alone--a "hideously difficult task," he said--because some problems are simply "not soluble or computable." The future, according to Brenner, requires going back to the bench. Old-fashioned data on the biochemistry of the cell would then be used to flesh out the cell map, which would serve as "a framework to think of genomes and their products.""
redux [07.29.02]
"Colin Hill, president and CEO of GNS, said the adoption of modeling will be slow, but even the largest and most stubborn pharmas will soon realize they have to adopt it if they want to compete.
He has seen more success selling pharmas the baby steps toward modeling: tools, such as its Diagrammatic Cell Language, software and database information, rather than actual models."
redux [11.27.00]
"What do a Boeing 777 and the human body have in common? Both are complex systems, dependent on millions of complex parts, whether they be a jet-propelled engine or a pumping organ such as the heart. The big difference: Engineers can design and build highly accurate computer models of the way a Boeing 777 will behave in flight. The human heart? Its complexity has long stymied efforts by researchers intent on turning drug development into a predictive science, much like building airplanes.
But that's changing. A handful of companies are developing software that can model single cells, whole organs, cellular metabolism and toxicology, diseases throughout a patient's body, and even an entire clinical trial."
redux [02.16.01]
"Computers capable of mimicking life have long been the stuff of sci-fi nightmares - think The Terminator or 2001's HAL 9000. But for researchers struggling to make sense of vast amounts of new biological data, and for drug companies anxious to cut costs and speed development, having accurate computer simulations of living systems is still a dream. To make that dream come true, they are turning to "in silico biology," building computer models of the intricate processes that take place inside cells, organs, and even people. The ultimate goal: an entire organism modeled in silicon, allowing researchers to test new therapies much as engineers "fly" new airplane designs on supercomputers."
redux [05.15.01]
[requires 'free' registration]
""We in physics are used to studying complex systems, but the level of complexity inherent in biological systems ... is way beyond what we have experience dealing with," said Rajagopal, assistant director of research at the Cavendish Laboratory in the University of Cambridge. "Biological systems are much harder to model as they are in highly non-equilibrium states and you not only have to take into account the flow of matter and energy, but also the flow of information!"
He added: "In biology, the whole is greater than the sum of its parts. We have to move on from the "reductionist" towards an "integrationist" approach."
redux [05.15.01]
[requires 'free' registration]
"For a brief period, supplying the data was enough. More genes meant more potential drug targets. But now the victims of the data flood are crying for help. Companies like Entelos, Inc. (Menlo Park, California) are coming to the rescue by building models that integrate all those data into a single, homeostatic, interconnected whole. The models allow researchers to run virtual drug trials to determine the best drug targets, treatment regimens, and patient populations."
Modelers feel that their time has come. "Leaders in the genomics field are all coming to this realization that model building is becoming the rate-limiting step," says Palsson. "There's a major shift taking place in the biological sciences." Math is back, he says, and "biology is going to become quantitative."
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InternetNews.Com
IBM Donates Supercomputer Resources
"IBM and Argonne have agreed to augment Argonne's Innovative and Novel Computational Impact on Theory and Experiment (INCITE) computer capacity with compute cycles on IBM's Blue Gene "BGW" supercomputer system at IBM T.J. Watson Research Center in Yorktown Heights, N.Y."
""What we're really talking about about is over 1 million CPU hours over the course of a year, running 24 x 7, minus maintenance and upgrades," Herb Schultz, a Blue Gene manager at IBM, told internetnews.com. "Depending on the project, the workload could take 10 racks at a time. We're trying to learn what these kinds of applications are all about, so it's a good exercise for us." Each of the twenty racks at the IBM facility has 2,048 CPUs."
redux [06.21.04]
"The latest list of the top 500 performing supercomputers in the world was released today and it shows IBM has placed two Blue Gene/L prototype systems in the top 10. Additionally, clusters are now the most common supercomputer architecture."
"Coming in at number four and eight were the Blue Gene/L DD1 and DD2 Prototype systems. The systems’ performance benchmarks were 11.68 teraFLOPS sustained speed and 16 teraFLOPS peak performance for the DD1 and 8.66 teraFLOPS sustained, 11.47 tearFLOPS peak for the DD2."
redux [02.20.04]
"IBM will install a second Blue Gene/L supercomputer as part of a radio telescope project in the Netherlands, the company plans to announce Monday.
The supercomputer will be used for a new radio telescope project called Lofar, short for low frequency array, run by a Dutch organization called Astron. The system, which is expected to be complete in 2005, will run the Linux operating system, use about 12,000 processors and perform more than 30 trillion calculations per second, sources familiar with the plan said."
redux [11.15.03]
"IBM on Friday talked up its Blue Gene/L supercomputer, the first module of which is a relatively small, dishwasher-size machine that can perform 1.4 trillion calculations per second.
The performance is enough to make the machine the world's 73rd fastest supercomputer, according to a ranking of the top 500 to be released Sunday. By the time IBM has upgraded the box's 512 chips, each with two processors, and linked it with another 127 identical systems in 2005, Big Blue hopes to take the top spot."
redux [09.19.03]
"WHATEVER happened to Blue Gene, IBM's ambitious attempt to build the world's fastest computer? The project, launched in 1999, called for the construction of a "massively parallel" computer with over 36,000 processing chips, each containing 32 processing cores roughly equivalent in power to a desktop PC. Harnessing all that computing horsepower--more than one petaflop, or 1,000 trillion floating-point calculations per second--would, it was hoped, allow scientists to simulate the folding of a protein, an extraordinarily demanding task which might help to streamline the discovery of new drugs. The idea was to achieve all of this within five years--something that even enthusiasts thought ambitious.
Four years on, the chips that will power the first Blue Gene computer are now being manufactured and tested. But the plans have changed somewhat."
redux [05.08.03]
""Blue Gene is a completely oddball, you've-never-seen-anything-like-this-before design," said Illuminata analyst Jonathan Eunice. "It is not custom everything, (but) it is still very exotic compared to anything you can buy.""
"IBM already has spent more than the original $100 million budgeted for the project and won't meet its 2004 goal for the ultimate machine, but the company has made progress bringing its ideas to fruition."
redux [02.11.03]
"THE first version of IBM's revolutionary Blue Gene chip will roll off the production line this quarter, Ajay Royyuru, head of IBM's Computational Biology Centre, has revealed."
""We plan to build a 512-node prototype Blue Gene machine in our Watson Research Centre, in New York, where I am located, hopefully before the end of the year.
Then we will build a 64,000- node Blue Gene machine and deliver it to the Lawrence Livermore laboratory by late 2004, or early 2005."
redux [10.24.02]
"Linux will be the main operating system for IBM's upcoming family of "Blue Gene" supercomputers--a major endorsement for the OS and the open-source computing model it represents."
""We had two choices of operating systems for the Blue Gene family, either use a special purpose system or Linux," Bill Pulleyblank, director of Exploratory Server Systems at IBM Research, said in a statement. "We chose Linux because it's open and because we believed it could be extended to run a computer the size of Blue Gene. We saw considerable advantage in using an operating system supported by the open-source community so that we can get their input and feedback.""
redux [07.13.01]
""Ambuj Goyal, IBM Research's general manager for software, solutions, and strategy, was more ambitious than that. Why not build a machine to model molecular dynamics using general-purpose chips rather than specialized ones? That way you'd produce a prototype for a whole new family of supercomputers. Not only would it be great technology development, it would be great marketing, too. Whereas the Department of Energy has the greatest interest in top-end supercomputing - with its need to understand how nuclear weapons work - focusing on the life sciences rather than the death sciences could make supercomputing more widely appealing. What's more, a biology program would be a way of telling one of the newest markets for big iron - the post-genome biotech world - that IBM took its interests seriously. "We believe that the life sciences are going to be a rapidly growing area," says Blue Gene project manager Bill Pulleyblank, "a huge growth area for IBM.""
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Wired News
Whew! Your DNA Isn't Your Destiny
"The more we learn about the human genome, the less DNA looks like destiny.
As scientists discover more about the "epigenome," a layer of biochemical reactions that turns genes on and off, they're finding that it plays a big part in health and heredity.
By mapping the epigenome and linking it with genomic and health information, scientists believe they can develop better ways to predict, diagnose and treat disease."
redux [07.02.04]
[requires 'free' registration]
"In a written commentary, evolutionary biologist Massimo Pigliucci said that Ruden's experiment was "one of the most convincing pieces of evidence that epigenetic variation is far from being a curious nuisance to evolutionary biologists." Pigluicci doesn't go so far as to say that the heritable changes caused by Hsp90 alterations are Lamarckian, but Ruden does. "Epigenetics has always been Lamarckian. I really don't think there's any controversy," he says.
Not that Mendelian genetics is wrong; far from it. The increased understanding of epigenetic change and the recent evidence indicating its role in inheritance and development doesn't give epigenetics greater importance than DNA. Genetics and epigenetics go "hand in hand," says Ohlsson. In the case of disease, says Reik, "there are clearly genetic factors involved, but there are also other factors involved. My suspicion is that it will be a combination of genetic and epigenetic factors, as well as environmental factors, that determine all these diseases.""
redux [10.07.03]
"The Human Epigenome Project will look for patterns in our "life code" that are associated with gene regulation but are also implicated in causing disease."
"Researchers at Epigenomics AG in Berlin and the Sanger Institute in Cambridge will take part in the five-year study."
"The announcement follows the completion of an HEP pilot project that studied methylation patterns within the Major Histocompatibility Complex in chromosome 6 to determine the methylation status of over 100,000 sites. Data from the pilot study, which was funded by the European Union, was released today on the HEP's website."
"The methylation data will be integrated with the human genome sequence using the Ensembl interface and publicly released at www.epigenome.org and at www.sanger.ac.uk/epigenome."
redux [10.06.03]
[requires 'free' registration]
"With the help of some fat yellow mice, scientists have discovered exactly how a mother's diet can permanently alter the functioning of genes in her offspring without changing the genes themselves."
"The research is a milestone in the relatively new science of epigenetics, the study of how environmental factors like diet, stress and maternal nutrition can change gene function without altering the DNA sequence in any way."
redux [09.13.01]
[requires 'free' registration]
"The term was introduced by Conrad H. Waddington in 1942.1 To paraphrase an erudite epistolary exchange in Science, he is said to contrast genetics with epigenetics , the study of the processes by which genotype gives rise to phenotype. In 1942 we had barely any clue as to what those processes are, so "epigenetic" had no connotation of the underlying chemical mechanism, whatever it was that modulated cell differentiation.
In 1994, as cited in the same issue of Science, Robin Holliday voiced a commonly apprehended drift in meaning, and redefined epigenetic as "Nuclear inheritance which is not based on differences in DNA sequence." These two memes are freely circulating and can cause muddle or mischief mainly when they recombine, namely when epigenetic-H is automatically applied to epigenetic-W."
"This neology of nucleic, epinucleic, extranucleic, has attracted few followers, I think largely because so few people had really thought through the distinctions. There is much merit in Ben Johnson's caution about unbridled proliferation of terms: "A man coins not a new word without some peril, and less fruit; for if it happen to be received, the praise is but moderate; if refus'd, the scorn is assur'd." But is a polysemy to be preferred, with thought-muddling as a further peril?"
redux [08.16.01]
[ summary can be viewed for free once registered ]
"Some of the weirdest genetic phenomena have very little to do with the genes themselves. True, as the units of DNA that define the proteins needed for life, genes have played biology's center stage for decades. But whereas the genes always seem to get star billing, work over the past few years suggests that they are little more than puppets. An assortment of proteins and, sometimes, RNAs, pull the strings, telling the genes when and where to turn on or off."
""The unit of inheritance, i.e., a gene, [now] extends beyond the sequence to epigenetic modifications of that sequence," explains Emma Whitelaw, a biochemist at the University of Sydney, Australia."
""[Epigenetic effects] give you a mechanism by which the environment can very stably change things," says Rudolph Jaenisch, a developmental biologist at the Whitehead Institute for Biomedical Research in Cambridge, Massachusetts. Researchers are hoping to harness these effects to design drugs that correct cancer and other diseases brought on by gene misregulation."
redux [07.11.00]
"Genes are tricksters. They can be turned on or off -- and whether they're on or off decides whether the gene-owner will develop disease.
Gene researchers have embarked on a new field of research, called epigenomics, to determine whether genes are in the on or off position. This type of marker could prove an important diagnostic or therapeutic tool for all types of cancer.
"At Johns Hopkins, researchers are performing clinical trials on about 15 patients with leukemia and other cancers to find out if epigenomics might give pharmaceutical companies a lead for developing cancer drugs.
The research, like all epigenomics research, is studying a chemical found in everyone's DNA called cytosine. Cytosine is the only chemical of the four that make up human DNA (the others are adenine, thymine, and guanine) that is prone to a phenomenon called methylation. When cytosine is methylated, it tuns off its gene."
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New York Times
Building a Virtual Microbe, Gene by Gene by Gene
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""You can sit down at a computer, and you can design experiments, and you can see the performance of this thing, and then you can figure out why it's done what it's done," Dr. Ellison said. "You're not going to recognize the full return of the biological revolution until you can simulate a living organism."
In the past few years this fantasy has become plausible and now Dr. Ellison is part of an international team of biologists who are now trying to make it a reality. They have chosen to recreate Escherichia coli, the humble resident of the human gut that has been the favorite species for biology experiments for decades."
redux [11.14.03]
"For now, "this is basic science at the most basic level with lots of unknowns".
But he added: "The ability to construct synthetic genomes may lead to extraordinary advances in our ability to engineer micro-organisms for many vital energy and environmental purposes"."
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"Venter also said during the press conference that his team would not commercialize PCA, nor would he file patents on it. "We'd rather wait till the next stage when there's a clear cut application: for instance if we have something that produces hydrogen that might hold some value." Asked how the PCA technology will be made available to other scientists he said "By reading our paper."
redux [11.26.02]
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"Craig Venter's "minimal genome" project announced Wednesday is not about creating a new life form and probably doesn't pose much of a biowarfare threat, researchers say. The high-profile project was just funded by the US Department of Energy (DOE) with $3 million going to the Institute for Biological Energy Alternatives (IBEA), one of the non-profit research institutes Venter founded after leaving the newly profit-minded Celera Genomics early this year.
According to some scientists, the new project won't even define the minimal genomethe basic gene set required for lifebecause there can be no single minimal genome."
"Several years ago, Venter first looked at this mycoplasma as the best such model, because the organism is a record-holder of sorts: the self-replicating life form with the smallest known complement of genetic material. Unlike the human genome with its 30,000 to 50,000 genes, M. genitalium gets by with only 517. But remarkably, nearly half of even that minimal set is extra baggage. Under some laboratory conditions, as few as 300 of the genes can fulfill its definition as a lifeform that feeds and divides.
As it turns out, what is the definition of life itself? and also exactly what is its minimal genetic set? have been hotly contested. Gene size is one of the main limits to what could be the final and minimal cell size, and thus may set a limit on possible targets for creating life from scratch.
But what structures are too small or too simple to be considered "life"?"
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Business Intelligence Network
Bioinformatics Data Integration
"The need for data integration is widely acknowledged in the bioinformatics community. Bioinformatics data is currently spread across the Internet and throughout organizations in a wide variety of formats. Success in most bioinformatics-related activities, from functional characterization of genomic sequences to prioritization of drug targets, requires an integrated view of all relevant data in a drug discovery R&D program. The challenges of data integration may be addressed using a wide variety of approaches, and integration systems abound in both the academic and commercial sectors. While each approach has strengths and weaknesses, it can be difficult to evaluate which approach suits a particular need best without fully understanding the data integration landscape."
redux [11.05.03]
"The scientists spending two days at the National Institutes of Health (NIH) in Bethesda this week want to integrate the reams of information spewed out from sequencing machines and computer models.
At the moment, it is a struggle to link a patient's genetic profile with their brain scans and the latest clinical studies. It's like a primitive PC running incompatible word-processing, e-mail and spreadsheet programs, says Erik Jakobsson of the National Institute of General Medical Sciences, who helped to convene the meeting. "We're way behind in making it all work together," he says."
redux [03.31.03]
"Separately, IBM last week announced it is working with a Canadian bioresearch center to create an information system that uses a virtual database to integrate data from a variety of databases, flat-file formats and file types. The iQ Engine, being developed with iCapture Center, of Vancouver, British Columbia, uses IBM's DB2 database and DiscoveryLink integration technology.
The goal is to create a system that will assist researchers in correlating genetic susceptibility of patients with cardiovascular and respiratory diseases to environment influences such as culture, socioeconomic status, educational background, inhaled cigarette smoke, pollutants, viruses, allergens, diet and obesity."
redux [03.17.02]
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"The great challenge in biological research today is how to turn data into knowledge. I have met people who think data is knowledge but these people are then striving for a means of turning knowledge into understanding. Knowledge and science are related words and to know, I believe, is to understand. Before rushing to convert genomics to 'genamics' and finding that it is another dead end, we should consider evacuating the Tower of Babel. We need a theoretical framework in which to embed biological data so that the endless stream of data, filled with the flotsam and jetsam of evolution, can be sifted and abstracted.
Very simply, the network we should be interested is not the network of names but the network of the objects themselves. The language of these objects is not the Oxford Dictionary of Molecular Biology--the Ontology Consortium's main source--but that of molecular recognition, the language of molecular biology itself."
redux [01.08.02]
"Research directed toward discovering how genetic factors influence a patient's response to drugs requires coordination of data produced from laboratory experiments, computational methods, and clinical studies. A public respository of pharmacogenetic data to which investigators from different centers can contribute will facilitate hypothesis generation for further research. We are developing a pharmacogenetics knowledge base (PharmGKB) that will support storage and retrieval of experimental data and conceptual knowledge. We are confronted with the challenge of designing an Internet-based resource that integrates complex biological, pharmacological, and clinical data in such a way that researchers can submit their data and users can retrieve information that supports genotype phenotype correlations. Successful management of the names, meaning, and organization of concepts used within the system is crucial. We have selected a frame-based knowledge-representation system for development of an ontology of concepts and relationships that represent the domain and that will permit storage of experimental data. Preliminary experience shows that the ontology we have developed for gene-sequence data submissions is appropriate for experimental data that researchers will enter."
"Ontologies are specifications of the concepts in a given field and the relationships among those concepts. The development of ontologies for molecular-biology information and the sharing of those ontologies within the bioinformatics community are central problems in bioinformatics. If the bioinformatics community is to share ontologies effectively, ontologies must be exchanged in a form that uses standardized syntax and semantics. This paper reports on an effort among the authors to evaluate a number of alternative ontology-exchange languages, and to recommend one or more languages for use within the larger bioinformatics community. The study selected a set of candidate languages, and defined a set of capabilities that the ideal ontology-exchange language should satisfy. The study scored the languages according to the degree to which they provided each capability. In addition, the authors performed several ontology-exchange experiments with the two languages that received the highest scores: OML and Ontolingua. The result of those experiments, and the main conclusions of this study, was that the frame-based semantic model of Ontolingua is preferable to the conceptual graph model of OML, but that the XML-based syntax of OML is preferable to the Lisp-based syntax of Ontolingua."
redux [05.10.00]
"There is an increasing demand for formalized knowledge on the Web. Several communities (e.g. in bioinformatics and educational media) are getting ready to offer semiformal or formal Web content. XML-based markup languages provide a 'universal' storage and interchange format for such Web-distributed knowledge representation. This tutorial introduces techniques for knowledge markup: we show how to map AI representations (e.g., logics and frames) to XML (incl. RDF and RDF Schema), discuss how to specify XML DTDs and RDF (Schema) descriptions for various representations, survey existing XML extensions for knowledge bases/ontologies, deal with the acquisition and processing of such representations, and detail selected applications. After the tutorial, participants will have absorbed the theoretical foundation and practical use of knowledge markup and will be able to assess XML applications and extensions for AI. Besides bringing to bear existing AI techniques for a Web-based knowledge markup scenario, the tutorial will identify new AI research directions for further developing this scenario."
redux [03.22.01]
"To realize the full potential of biological databases requires more than the interactive, hypertext flavor of database interoperation that is now so popular in the bioinformatics community. Interoperation based on declarative queries to multiple network-accessible databases will support analyses and investigations that are orders of magnitude faster and more powerful than what can be accomplished through interactive navigation. I present a vision of the capabilities that a query-based interoperation infrastructure should provide, and identify assumptions behind, and requirements of, this vision. I then propose an architecture for query-based interoperation that identifies a number of novel components of an information infrastructure for molecular biology. Those components include: A knowledge base that describes relationships among the conceptualizations used in different biological databases; a module that can determine what known DBs are relevant to a particular query; a module that can translate a query, or the results of a query, from one conceptualization to another; a family of DB drivers that provide uniform physical access to different DBMSs; a family of translators that can interconvert among different database schema languages; and a database that describes the network location and access methods for biological databases. A number of the components are translators because biological databases exhibit heterogeneity at several different levels, including the conceptual level, the data model, the query language, and data formats."
redux [02.28.01]
"The integration of heterogeneous data sources and software systems is a major issue in the biomedical community and several approaches have been explored: linking databases, "on-the-fly" integration through views, and integration through warehousing. In this paper we report on our experiences with two systems that were developed at the University of Pennsylvania: an integration system called K2, which has primarily been used to provide views over multiple external data sources and software systems; and a data warehouse called GUS which downloads, cleans, integrates and annotates data from multiple external data sources. Although the view and warehouse approaches each have their advantages, there is no clear "winner". Therefore, users must consider how the data is to be used, what the performance guarantees must be, and how much programmer time and expertise is available to choose the best strategy for a particular application. Our experiences also point to some practical tips on how updates should be published by the community, and how XML can be used to facilitate the processing of updates in a warehousing environment."
redux [01.17.01]
"Personal bibliography on query mediation, database integration, database interoperability and related topics, concentrating on projects in genomic research."
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The Boston Globe
Flaws are found in validating medical studies
"Now, after a study that sent reverberations through the medical profession by finding that almost one-third of top research articles have been either contradicted or seriously questioned, some specialists are calling for radical changes in the system."
In advance of a world congress on peer review next month in Chicago, these specialists are suggesting that reviewers drop their anonymity and allow comments to be published."
""It would be lovely to start anew and to set up a trial of peer review against no peer review," Rennie said. "But no journal is willing to risk it.""
redux [06.25.04]
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"More than money and success is at stake. Free and widespread distribution of new research has the potential to redefine the way scientific and intellectual developments are recorded, circulated and preserved for years to come.
"Society pays for science," said Dr. Nicolelis, whose article in the October issue of PLoS got worldwide attention. "We have the technology, we have the expertise. Why is it that the only thing that has remained the same for 50 years is the way we publish our results? The whole system needs overhaul.""