SNPs
edyong | March 11, 2010Not Exactly Pocket Science is a set of shorter write-ups on new stories with links to more detailed takes by the world's best journalists and bloggers. It is meant to complement the usual fare of detailed pieces that are typical for this blog.
Geneticist sequences own genome, finds genetic cause of his disease
If you've got an inherited disease and you want to find the genetic faults responsible, it certainly helps if you're a prominent geneticist. James Lupski (right) from the Baylor College of Medicine suffers from an incurable condition called Charcot-Marie-Tooth (CMT) disease, which…
edyong | February 17, 2010
Meet !Gubi, the tribal elder of a group of Bushmen (or Khoisan), one of the oldest known human lineages. He lives the life of a hunter-gatherer in the Namibian part of the Kalahari Desert. But he also has a strange connection to James Watson, the British American scientist who helped to discover the structure of DNA. For a start, they're both around 80 years old. But more importantly, they are two of just 11 humans to have their entire genomes sequenced.
Along with Archbishop Desmond Tutu, !Gubi is one of two southern Africans, whose full genomes have been sequenced by Stephan Schuster and…
razib | January 10, 2010Weird but fun list, SNPedia's Top 10 SNPs of the Year:
SNPedia now contains nearly 10,000 SNPs and to welcome 2010 we'd like to highlight at least 10. These SNPs have been selected based on an elusive and ultimately subjective combination of medical importance, statistical believability, and overall general interest. This isn't objective science though, so feel free to comment about why your favorite SNPs should have made the list.
H/T Eye on DNA.
razib | April 11, 2009Science News has an interesting piece up, Shared Differences: The architecture of our genomes is anything but basic. The main focus is on genetic variation, the possibility that there might be important information in copy number variance, and that the common disease-common variant hypothesis is dead. At least for complex traits that we're interested in like schizophrenia. If any of this is unfamiliar or confusing, I recommend the article, it even has references to the primary literature that you can follow up on.
sporte | August 21, 2008One of the things that drives me crazy on occasion is nomenclature. Well, maybe not just nomenclature, it's really the continual changes in the nomenclature, and the time it takes for those changes to ripple through various databases and get reconciled with other kinds of information. And the realization that sometimes this reconciliation may never happen.
One of the projects that I've been working on during the past couple of years has involved developing educational materials that use bioinformatics tools to look at the isozymes that metabolize alcohol. As part of this project, I've been…
sporte | December 5, 2007If you like ham and bacon, you might be interested in this. GenomeWeb reports that researchers at the University of Barcelona have developed an assay that tests 46 SNPs and can be used to trace the origin of your pork dinner.
According to GenomeWeb, the test identifies both the breed and origin of the animal.
The university and the company said meat traceability is necessary to ensure consumer safety, particularly in cases of infectious disease outbreaks or accidental feed contamination.
No more doubts about the home of your Jamón.
sporte | November 19, 2007Since DNA diagnostics companies seem to be sprouting like mushrooms after the rain, it seemed like a good time to talk about how DNA testing companies decipher meaning from the tests they perform.
Last week, I wrote about interpreting DNA sequence traces and the kind of work that a data analyst or bioinformatics technician does in a DNA diagnostics company. As you might imagine, looking at every single DNA sample by eye gets rather tiring. One of the things that informatics companies (like ours) do, is to try and help people analyze several samples at once so that they can scan fewer…