DNA Day is approaching. On April 25th, nearly 60 years ago, Watson and Crick published their research clinching DNA as the genetic code. DNA Day is celebrated internationally to raise the public’s understanding of genetics, DNA and genomics. You can also check out many sites this month (and through the year) to learn more about genetics [...]
Just over a week ago, while Mary & Trey were presenting our live UCSC and ENCODE workshops, I was back home enjoying the live feed of the “A Decade with the Human Genome Sequence: Charting a Course for Genomic Medicine” symposium from NHGRI. I missed a few of the live session due to family obligations, [...]
More and more disease-causing mutations are being identified in exonic splicing regulatory sequences (ESRs). These disease effects can result from ESR mutations that cause exon skipping in functionally diverse genes. In today’s tip I’d like to introduce you to a tool designed to detect exon variants that modulate splicing. The tool is named SKIPPY and [...]
Recently there was much buzz in the #bioinformatics twittersphere over this blog post by Sean Eddy: The next five years of computational genomics at NHGRI It is a very nice post about some exciting prospects for the future. The idea of planning “explicitly for sustainable exponential growth” is wise. There will be no abatement of [...]
I had a Basset Hound growing up. His name was Useless, Useless S. Grunt. Well, actually it was formally Ulysses S. Grant because the US Kennel Club wouldn’t accept Useless S. Grunt as a name as they felt it was too demeaning. Not sure if they felt it was demeaning to the dog or to the [...]
Today’s tip is on a new resource brought to you by the National Human Genome Research Institute, or NHGRI. The resource is PhenX Toolkit version 2.1, which was released on May 22 2009. The PhenX Toolkit provides protocols for taking standardized measurements of research subjects’ physical characteristics and their environmental exposures. You can browse for [...]
NHGRI recently pointed out our new set of tutorials on model organism databases (funded mainly by NHGRI on their home page, genome.gov. Always nice to be recognized . And it gives me the opportunity to again point out that we do indeed have seven publicly available tutorials and training materials (slides, exercises, etc) on model [...]
NHGRI asks if Darwin is relevant today….and guess what the answer is? You can go here for a page devoted to the festivities: http://genome.gov/27529500 You can launch the video there if it doesn’t work here: My favorite part of the video is when Leslie Biesecker takes us from Darwin–>software, of course. Later on he also [...]
I’m very interested in public policy and genetics. There are a number of threads that I was following along those lines. On the actual legislation I was watching the GINA efforts, and participating where I could. I was reading an article on the downstream effects of that today (Two Cheers for GINA, by McGuire and [...]
Man, it seems like everyone wants to hear from us these days….Here’s another request that came via The Genetic Alliance mailing list: Dear Colleagues, The National Human Genome Research Institute has embarked on a long-range planning process focused on the future of human genome research. To kick-start a conversation among our community, we have posted [...]
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