Genomics
New Blog on the Block
14/07/10 15:30 Filed in: GenomeWeb Daily Scan
Genomes Unzipped is a new blog site that aims to provide independent and informed analysis of developments in the field of genetics, with a particular focus on implications for the budding industry of personal genomics. S. Pelech welcomes more critical analyses in this area, especially since only about 3% of the human genome actually encodes proteins and other recognizable RNA elements such as tRNA, rRNA and microRNA, and the rest is probably filler or "junk" DNA. He argues that the current euphoria and focus on genome sequencing in thousands of humans and hundreds of other species will lead to a major diversion of funding and research that will be insufficient to support the delivery of personalized medicine. Read More...
The Genome of Sitting Bull
23/08/10 14:21 Filed in: GenomeWeb Daily Scan
Science News reported that there are plans to sequence the genomes of Sitting Bull and some would like to similarly examine the genome sequences of other famous people in history. S. Pelech wonders about the merits and logic of sequencing the genomes of long dead celebrities at this time when our knowledge of the proteome is still so limited and funding is tight, and there are more pressing demands with dealing with a depressed global economy and major environmental problems. Read More...
Human Genome Times 50 in One Small Flower
08/10/10 15:26 Filed in: GenomeWeb Daily Scan
The rare white flower from Japan, the Paris japonica, has been found to have the longest genome in the world that with about 150 billion base pairs is about 50 times longer than that of a human being, and blogger Elizabeth Pennisi at ScienceShot suggests that "plants with lots of DNA have more trouble tolerating pollution and extreme climatic extinctions — and they grow more slowly than plants with less DNA, because it takes so long to replicate their genome." Based on other evidence, S. Pelech disagrees and provides several examples of species where there is a poor link if any between the size of a genome and the rate of growth, life span or evolutionary selection for these organisms. Read More...
Going 'Beyond the Genome'
14/10/10 14:08 Filed in: GenomeWeb Daily Scan
The most accurate estimate of the number of human genes is 22,333 human genes, and about 2,000 are highly predictive and medically actionable according to presentations given at BioMed Central's Beyond the Genome conference. S. Pelech wonders why despite the complete sequencing of the human genome for nearly a decade, it is still unresolved exactly how many human genes actually exist. He notes that phosphosites have been identified by mass spectrometry in cell lysate proteins that have since been deleted from Uniprot, while about 4 to 5 percent of human proteins predicted by genome sequencing are still not yet tracked in this repository. Read More...
(Don't) Be Still My Beating Heart
22/11/10 18:56 Filed in: GenomeWeb Daily Scan
Jonathan Seidman at Harvard Medical School made a case for the importance of studying rare genetic variants that cause cardiomyopathy, while there are several common variants, there are multiple rare variants that can significantly increase a patient's chances of suffering from the disease. S. Pelech comments that while the rates of heart disease and stroke in North America and Europe have temporarily declined, the future is much bleaker for the younger generation with more than a 5-fold in child obesity in the last 25 years. Although the study of genetic mutations in families with documented histories of diseases has proven to be very insightful and worthy of continuation, the identification of SNP variants in the general population that are linked to predisposed risks for these and other diseases of aging by random genome wide sequencing will be immensely more challenging. Read More...
Reports Tout Return on NIH's Investment
13/05/11 05:28 Filed in: GenomeWeb Daily Scan
A new report from the advocacy group United for Medical Research, and authored by economist Everett Ehrilich predicts that "the gene sequencing business will grow by 20 percent a year and become a $1.7 billion industry by 2015. According to a separate report authored by the nonprofit Battelle Memorial Institute, the National Institutes of Health's $3.8 billion investment in the Human Genome Project, along with subsequent capital provided by the government and the private sector, generated a total return of roughly $49 billion in direct and indirect federal tax revenues over the last two decades or so. S. Pelech questions the validity of estimates of the economic benefits from the direct investment of the NIH in the Human Genome Project (HGP), especially since private industry and non-HGP government- and charity-funded investigator-driven projects made major in-roads in the identification and characterization of most of the human genes that have actually been targeted by the industry to date. Read More...
Blurry Lines and the Cost Curve
27/03/12 01:54 Filed in: GenomeWeb Daily Scan
The New York Times featured an article focusing on Complete Genomics' efforts to offer cheaper sequencing through the combination of biology, chemistry, and computing, and mentions the stiff competition in the field. S. Pelech mentions the results of a completed detailed meta-analysis of all of the reported mutations in over 3000 human genes that have been linked with cancer in one way or another that was performed at Kinexus Bioinformatics Corporation out of curiosity to see what might be expected from random sequencing of cancer genomes. These studies revealed that the vast majority of these cancer genes feature mutations that are apparently randomly distributed throughout their entire sequences, and in most cases less than 1% of their amino acids have been observed to be altered with any cancer. Moreover, for more than half of these cancer-associated genes, either none or only 1 or 2 mutations were reported. Read More...