1000 Genomes: A World of Variation

The 1000 genomes project is working to sequence the genomes of at least 1000 individuals in the hopes of discovering 95% of the variation that occurs in at least 1% of the population. Already, it has located 15 million SNPs, 1 million short indels and 20,000 large structural variants, for a total of over 16 million variations, half previously unknown. Because many diseases are not the product of one gene, such a widespread database of variation could help researches connect many genes and allelic differences to any given gene. Some researchers also hope that by continuing the project past 1000 genomes and including related individuals could help clarify genetic components to these diseases.

Genomics and Human Disease

Using data from the 1000 human genome project, these researchers are suggesting that recent mutations are more involved in disease protection or susceptibility rather than ancient mutations.  They attempt to present a unified theory of genetic disease that encompasses both common and rare Mendelian, multiple allele, SNP, and copy number variation mutations.  Especially important in their observations is that many diseases are caused by rare alleles, signifying that mutations in the last two generations have a huge impact on disease.
Also, this is a news article that discribes the research as well. http://www.sciencedaily.com/releases/2011/09/110929122751.htm

lincRNAs

Researchers at Stanford University School of Medicine have found that they were able to identify where on the chromatin regulatory RNA’s are acting. They utilized new techniques to elucidate the binding specificity of lincRNAs from fruit fly and two mammalian species. They found that these sites are “focal, numerous and site specific”.

The Human Genome Project, Then and Now

In this article, a researcher analyzed specific quotes from his own article, written in 1986, in which he discussed his optimistic predictions for the human genome project. In general, it seems that all of his goals for the project did come to pass, like a database and determining key genes involved in disease. It's interesting that we have even surpassed some of his predictions. (Although I wonder if they perhaps only chose his points which came to pass?)

http://the-scientist.com/2011/10/01/the-human-genome-project-then-and-now/

Speed-bumps ahead for the genetics of later-life diseases

This article expands on the ideas of Eric S. Lander by investigating further into the genetic makeup of common disease, with a focus on later-life diseases. With age as the dominant risk factor for many diseases, researchers want to know what role genetics play in the aging process. Chance plays a large part in late-onset diseases because of the weakening of natural selection, the complexity of late-life traits, and the fact that aging is largely determined by molecular and cellular damage. While GWAS have revealed a number of genes associated with diseases such as Alzheimer's, researchers suspect that there are many more genes with smaller effects that collectively cause ageing.

Richard Resnick on the Genomic Revolution

Richard Resnick weighs in on moral issues associated with the genomic revolution. A decade has passed since our 2 cornerstone readings for this week were published, and the consequences of the Human Genome Project are unexpected and varied. Resnick goes through some of the reasons why this information has transformed our society (mostly through medicine) for the better. On the flip side he evaluates the realized negative consequences of this information, and predicts imminent problems that we, as citizens of humanity, will soon face. Can you think of anything that he did not cover in this talk that you feel exemplifies either the 'pros' or 'cons' of the genomic revolution?

Mouse genomic variation and its effect on phenotypes and gene regulation

This research team sequenced the genomes of 17 different mouse strains, creating the largest genetic database for any vertebrate organism. 56.6 million SNPs were identified in the mouse genome, and some of these mutations have been related to various disease phenotypes including heart disease and diabetes. Since mice are used in a lot of research for human disease and cancer, it is important to understand their genome and the mutations involved in order to relate this research to human disease. Now, researchers will be able to use a programmed computer mouse, instead of actual mice, to study mutations and particular genetic diseases. One of the researchers, Ian Jackson, said that this study "is transforming our understanding of how DNA sequence variation relates to gene function, and ultimately its association with biology and human health."