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Melanoma sequencing identifies new druggable targets

Next-generation sequencing technologies are enabling unbiased searches for new cancer genes at an unprecedented scale. In 2011, a flurry of cancer exome and whole-genome papers have been published in high-impact journals, with more in the pipeline. The first genes to be targeted for personalized treatment will be ones harboring recurrent mutations at a high frequency and those with already known inhibitors/modulators. The delivery of personalized therapies in cancer will no longer be bottlenecked by a lack of targets; the development of effective therapies will require new insights into how cancers become resistant to drugs and hopefully, therapeutic interventions that bypass acquired resistance.  Read more

Chimpanzees are selfish, but children are kind

I pose an age-old question: what is it that makes us human? I think it depends who you ask. Ask a cognitive neuroscientist and they may say it’s our theory of mind, which is a fancy way of saying humans have empathy. Ask an evolutionary biologist and they will likely point out all the morphological traits that distinguish us from other primates, such as the large size of our cranial vaults or our opposable thumbs. Ask a psychologist and they may cite our conscience or our ability to use symbolism. But no matter who you ask, most would likely agree that our capacity for sharing resources and the social rules that regulate sharing are specific to human culture.  Read more

Archon Genomics X Prize in brief

As I understand it, the contest is technology-driven to get 100 genomes in 30 days. The benefits to us in the genetics community is 100 excellent genomes sequenced many times over, from 105 year-olds who act as supercontrols for age-related diseases. We also get a software contest so we get better browsers. I think if the 100 centenarians can be taken from 10 different projects, then we can leverage the projects via the shared controls and get more data sharing and trust  … Read more

Setting standards for medical genome sequencing

As described in the editorial “Towards a medical grade human genome sequence”, we are pleased to collaborating with the $10 Million Archon Genomics X PRIZE (AGXP) to develop a set of standards and procedures to help with judging the prize contest. Your comments are needed but should not be limited to this aim alone because the contest is just the beginning of this standard-setting project. For examples, it is likely that the very kinds of genome variation browser and related software that are needed to evaluate the sequencing effort are the spin-off product the community really needs to make medical genomics a reality.  Read more

Update on post-GWAS functional standards paper

It is interesting to see how new views are building up as more authors join the initiative to develop the draft standards paper. It is also fascinating to see them experiment with new tools and services for a diverse author group. There is now an active discussion page for authors and referees of the standards paper at Wikigenes. A collection of relevant supporting papers has been assembled on Mendeley. It would be great if the corresponding authors have time to submit a revised draft to Nature Precedings before the authoring deadline so that we can see how the reference copy has evolved.  Read more

Wikigenes joins our experiment in collaborative authoring of standards

Now there is another way to make your contribution to the standards document “Principles for the post-GWAS functional characterisation of risk loci” described in the previous post, automatically becoming a co-author in the process. Wikigenes creator Robert Hoffmann has set up a splash page, introducing the paper and a link to the editable version at Wikigenes.  Read more