Inspiring words from NIH director Francis Collins.
Posts Tagged ‘genomics’
In the beginning, scientists sequenced the human genome. And the human genome was good…but not good enough.
Next came epigenetics. And epigenetics was also good. But not good enough.
And then scientists thought very hard and invented a technology for producing three-dimensional genome structures. And three-dimensional structures was good. Very good.
In a Nature Biotechnology article published December 25th, 2011, a team of scientists from the University of Southern California, described a method for genome-wide mapping of chromatin interactions known as tethered conformation capture (TCC). The method performs ligations on solid substrates rather than in solution, which helps facilitate a detailed analysis of interactions within and between chromosomes. The team then developed a computational method to translate the TCC data into physical chromatin contacts in a population of three-dimensional genome structures.
Understanding the structure of the genome is crucial to understanding its function as a whole, said Lin Chen, professor of molecular biology at the USC Dornsife College of Letters, Arts and Sciences.
“Everything biological works in the three dimensions,” Chen said. “Therefore, to understand it completely, you have to understand it three-dimensionally.”
By analyzing the differences and similarities in genome structure between various cells, scientists are able to discern what basic principles of 3-D organization are. In addition, the structure allows scientists to see where each gene is located relative to any other gene and how this arrangement is important to cellular functions.
Thanks to USC for contributing to this story.
New research sifts through the entire genome of thousands of human subjects to look for genetic variation associated with height. The results of the study, published by Cell Press in the December issue of the American Journal of Human Genetics, suggest that uncommon genetic deletions are associated with short stature.
Height is a highly heritable trait that is associated with variation in many different genes. “Despite tremendous recent progress in finding common genetic variants associated with height, thus far these variants only explain about 10% of the variation in adult height,” explains senior study author, Dr. Joel N Hirschhorn, from Children’s Hospital Boston and the Broad Institute. “It has been estimated that about half of height variation could eventually be accounted for by the sorts of variants we’ve been looking at, so it is possible that other types of genetic variants, such as copy number variants (CNVs), may also contribute to the genetic variation in stature.”
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I just read a great article in Science Insider discussing the recent report by the National Research Council that recommends the establishment of a massive database combining patient medical records with genomic information related to their disease.
Aside from being informative, the review by Science is actually quite helpful to the general public since the report is only available for a fee! Nonetheless, a quick google search netted me a copy of the report in brief which can be read here.
I won’t go into the details of the article, (that is for you to read), however,
after reading the article in brief, (ie the free version), I truly believe that the committee’s recommendations are correct. Due to the complexity and volume of data needing to be analyzed, an open access philosophy that allows for unfettered access to ALL data types will certainly help revolutionize our approach to personalized medicine.
My mother-in-law is a virus. And it’s not just my mother-in-law. My father-in-law, my wife…even me. We are all viruses! Watch this video to hear Carl Zimmer explain how our genome is comprised of 6-times more viral genomic material than human.