dgmacarthur

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February 5, 2009
Just a quick pointer to a new paper in American Journal of Human Genetics with my office-mate Bryndis Yngvadottir as lead author, which I see has already received some well-deserved coverage from ScienceDaily and GenomeWeb Daily News. The paper shows that specific types of genetic variants that…
February 5, 2009
Regular readers will know that I'm at the Advances in Genome Biology and Technology (AGBT) meeting this week, one of the most highly-awaited meetings on the genomics calendar. There's a huge amount of fascinating data being presented (anyone interested in a blow-by-blow account should follow…
February 4, 2009
The view from my back door in Cambridge on Monday: The view from my hotel balcony in Marco Island this afternoon: Subscribe to Genetic Future.
February 2, 2009
Helix Health's Steve Murphy rather breathlessly announces the launch of the Coriell Personalized Medicine Collaborative website (for the uninitiated: you can tell Steve is really excited when he uses five exclamation marks at the end of a sentence rather than four.) To be fair, it is big news.…
February 1, 2009
Francis Collins, former Director of the National Human Genome Research Institute, in a presentation last week (as reported by GenomeWeb Daily News): He also said that he is "delighted" that direct-to-consumer genetic testing services are being offered, even though the field "has become a favorite…
February 1, 2009
Edited 2/2/09: The cited study discusses pre-natal genetic screening, not only embryo screening; I've updated some wording to reflect this, but it doesn't have any major impact on the overall message. Razib points to an article suggesting that Australian couples are "flocking" to a US fertility…
February 1, 2009
Complete Genomics is a DNA sequencing company that launched back in October, and has been creating a buzz in the genomics community ever since. The company's business model is based around a novel technology for rapidly generating DNA sequence data; but rather than make its money by selling its…
January 28, 2009
Nearly five months after 23andMe dropped the price of its genome scan service from $1000 to $400, personal genomics competitor Navigenics has made its own foray into the lower-cost genetic testing market. Navigenics has always been the most expensive of the three mainstream genome-scan companies,…
January 27, 2009
Misha Angrist passes on a call from Case Western University for personal genomics customers to participate in a study of the experience of getting your genome scanned. If you've paid money to 23andMe, deCODEme or Navigenics, consider getting involved - Misha assures us that the process was…
January 26, 2009
I'll be at the Advances in Genome Biology and Technology meeting next week - this will be my my first experience of this annual conference on Florida's picturesque Marco Island, but I already have high expectations based on reports from previous years. The programme is packed with cutting-edge…
January 22, 2009
New Scientist has an investigation into companies offering surreptitious genetic testing - basically, providing analysis of DNA samples obtained without permission from others. Currently popular uses are searching for evidence of non-paternity or infidelity (by testing underwear for strange DNA),…
January 21, 2009
Keith Robison from Omics! Omics! has a fun nostalgia piece looking back on his days in the midst of the genomics bubble of the late 90s. Subscribe to Genetic Future.
January 19, 2009
Welcome to the 42nd edition of Gene Genie, the blog carnival of clinical genetics and personalised medicine. Most of the entries in this edition fall under the broad umbrella of personalised genetics, with posts emphasising both the pros and cons of the emerging consumer genetic testing industry…
January 19, 2009
Well, it's a little late, but I finally have a list of what I see as some of the major trends that will play out in the human genomics field in 2009 - both in terms of research outcomes, and shifts in the rapidly-evolving consumer genomics industry. For genetics-savvy readers a lot of these…
January 16, 2009
A new paper in Bioinformatics describes an efficient compression algorithm that allows an individual's complete genome sequence to be compressed down to a vanishingly small amount of data - just 4 megabytes (MB). The paper takes a similar approach to the process I described in a post back in June…
January 16, 2009
Razib has an excellent discussion of a brand new paper in PLoS Genetics, which uses DNA samples from medieval Icelandic skeletons to explore the genetic history of the Icelandic population. This population is of course of great interest to human geneticists: the Icelandic company deCODE (the home…
January 14, 2009
Still quite a way, based on this survey of second-generation sequencing users (subscription only, I think) conducted by the industry publication In Sequence. Along with a range of other questions, the survey asked users about the cost to generate one billion base pairs (one gigabase, or Gb) on…
January 14, 2009
Olivia Judson's blog has a guest post by Aaron Hirsh that got me thinking about a topic that will be familiar to most scientists: the transition of research towards Big Science. Big Science basically includes any project involving a large consortium of research groups working together on a tightly…
January 13, 2009
A very belated note to say that I'll be hosting the 42nd Gene Genie blog carnival here this weekend. Gene Genie showcases the best of the blogosphere on any topic pertaining to genes and gene-related diseases. Due to the late announcement I'll be accepting submissions up until Saturday night (…
January 13, 2009
Following the dramatic appearance of the field of personal genomics just over a year ago the major players in the field have worked hard to distinguish themselves from their competition: 23andMe has emphasised the intellectual joy of learning about genetics, and also attempted to actively engage…
January 12, 2009
Steven Pinker's recent article in the NY Times is a rich source of insight into the field of personal genomics and the experience of personal genomics customers - if you haven't read it already, you really should. This paragraph, for instance, seems to perfectly encapsulate the experience of the…
January 12, 2009
A press release today describes a potentially exciting partnership between two companies in the DNA sequencing space: Oxford Nanopore Technologies and Illumina. Illumina is an established player in the field, providing one of the most widely-used second-generation sequencing platforms (the Genome…
January 11, 2009
I'll hopefully have more to say about Steven Pinker's long and excellent essay in the NY Times later - but for now, go read it yourself, and then read John Hawks' thoughtful comments.
January 11, 2009
Some of you may have noticed that the RSS feed for the DNA Network has been down for quite some time. Hsien-Hsien Li from Eye on DNA has come up with a work-around. To re-subscribe to the Network, click here.
January 9, 2009
T. Hofer, N. Ray, D. Wegmann, L. Excoffier (2009). Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection Annals of Human Genetics, 73 (1), 95-108 DOI: 10.1111/j.1469-1809.2008.00489.x I've just been…
January 7, 2009
Daniel G. Hert, Christopher P. Fredlake, Annelise E. Barron (2008). Advantages and limitations of next-generation sequencing technologies: A comparison of electrophoresis and non-electrophoresis methods Electrophoresis, 29 (23), 4618-4626 DOI: 10.1002/elps.200800456 The dideoxy termination method…
December 22, 2008
Emily Singer has a fantastic article in MIT's Technology Review reviewing the current state of play in human genomics. A curious highlight for me was this panel of mug-shots from the PGP-10, the 10 high-profile volunteers currently having their genomes sequenced as part of the Personal Genome…
December 19, 2008
xkcd has some good advice for high-schoolers: That goes doubly for anyone even vaguely interested in a career in biology, and particularly genetics - right now, even some basic scripting experience will take you further than any amount of pipette-wrangling. I wish I'd known this when I was back in…
December 19, 2008
Sure is news to me - from popsci.com: Archon X Prize for Genomics Purse: $10 million Goal: Sequence 100 human genomes in 10 days for $10,000 per genome or less Status: ZS Genetics, which is developing an approach that replaces fluorescent tagging with decodable electron-microscope images of DNA, is…
December 18, 2008
Nature has a list of the top news stories of 2008, and "Personal genomics goes mainstream" comes up second: In January, an international consortium announced the launch of the 1,000 Genomes Project, which aims to provide a catalogue of human genetic variation. In October, the Personal Genome…