dgmacarthur

In addition to the African and Asian genome studies I discussed in my last post, Nature's latest issue is completely dominated by the topic of personal genomics. Erika Check Hayden has a nice piece on methods to squeeze the most out of your own personal genomic data, including a profile of the…

The latest issue of Nature is just as it should be: nearly wall-to-wall human genomics, with a special focus on personal genomics (more on that later). The main event is a potential historical milestone: quite possibly the last two papers ever to be published in a major journal describing the…

One of the major challenges of the personal genomic era will be knowing exactly which (if any) of the millions of genetic variants present in your genome are likely to actually have an impact on your health. Such predictions are particularly problematic for regulatory variants - genetic changes…

Dienekes takes a critical look at 23andMe's new "global similarity" tool (requires a 23andMe login or a demo account to view), which allows you to visually place your own genetic data in the context of genome-wide SNP data from over 1,000 individuals from around the world. The take-home message:…

Retail DNA tests - personified by personal genomics company 23andMe - have been named Time magazine's Invention of the Year. The fairly lengthy citation notes that "[a]lthough 23andMe isn't the only company selling DNA tests to the public, it does the best job of making them accessible and…

One of the ethical quandaries raised by direct-to-consumer genetic testing is the possibility that customers may send in DNA samples for analysis from other people who haven't provided informed consent - prospective spouses, for instance, a la Gattaca - and then use that genetic information for…

Over at Think Gene, Drew Yates has a fine rant about the notion that using unsupported genomic information to make medical decisions is better than simple voodoo.

Over at PolITiGenomics, Washington University's David Dooling discusses his work as part of the Tumor Sequencing Project. The TSP and a variety of other groups (like The Cancer Genome Atlas) are using large-scale sequencing to create comprehensive maps of the genetic changes that underlie cancer…

When James Watson's genome sequence was publicly released earlier this year, Watson famously kept only one region of his DNA a secret - the region encoding the APOE gene, which contains common variants that contribute substantially to the risk of late-onset Alzheimer's, and also affect…

The promise of release of raw sequence data files from the first 10 Personal Genome Project volunteers certainly caused a media stir (see the round-up by the PGP's own Jason Bobe), but the actual released data are pretty underwhelming. So far raw sequence data files have been posted on the PGP…

The first 10 participants of the ground-breaking Personal Genome Project (PGP) will be receiving a hefty chunk of data today: the sequence of the protein-coding regions from many of their genes (collectively known as the "exome"). And if all goes according to plan, they'll soon be dumping all of…

Navigenics has announced in the industry publication In Sequence (subscription only) that it plans to add gene sequencing to its personal genomics service. This would make it the first of the "Big Three" personal genomics companies (Navigenics, 23andMe and deCODEme) to offer analysis of rare as…

From a geneticist's point of view, male pattern baldness - also known as androgenic alopecia - is a tempting target. Baldness is common in the general population, with a prevalence that increases sharply with age (as a rule of thumb, a male's percentage risk of baldness is approximately equal to…

Nature News has an intriguing article on the next three decades of reproductive medicine: essentially a series of short musings from scientists working in the field about the issues we will be facing in 30 year's time. It's worth reading through in full, but this statement from Susannah Baruch at…

The already frantic DNA sequencing market just got a little bit more crowded, with the dramatic entrance of a new competitor called Complete Genomics. The newcomer brings new technology to the table, as well as big promises: namely the commercial provision of whole-genome sequencing for a bargain $…

Anyone who has walked past a TV set over the last few days will have seen footage of the remarkable Jamaican sprinter Usain Bolt, who comfortably cruised to victory (and a world record) in the Olympic 100 metre sprint, and as I write this has just done precisely the same thing in the 200 metre…

Google co-founder Sergey Brin has discovered that he carries a genetic variant associated with a fairly serious increase in Parkinson's disease risk. Brin found out about the variant through a 23andMe genome scan (Brin is married to 23andMe co-founder Anne Wojcicki, so I'm sure he gets to play with…

This will probably only be of interest to population genetics afficianados, but I just noticed that the HapMap project has made its phase 3 data available through its browser (the data were previously available for download, but are much more accessible - especially to non-bioinformaticians -…

The genome-wide association study has been the technique du jour in human genetics for much of the last two years. It's a pure brute force approach, surveying up to a million sites of common variation throughout the genomes of thousands of people at a time, some of whom suffer from a particular…

The successes of genome-wide association studies (GWAS) in identifying genetic risk factors for common diseases have been heavily publicised in the mainstream media - barely a week goes by these days that we don't hear about another genome scan that has identified new risk genes for diabetes, lupus…

This story doesn't seem to have got much press - understandably, since the media is getting sick of "first" genomes, and there's very little useful information available in the press releases - but a collaborative effort between Saudi Biosciences, the Beijing Genomics Institute and bioinformatics…

Update: Please RSVP on Facebook if possible. Tim Lambert from Deltoid has organised a ScienceBlogs millionth comment party in Sydney. I'll be there as well (albeit probably looking a little frazzled and well in need of a beer, as I move to the UK on the following Monday!). Here's what Sydney…

A quick note for bioinformaticians in the audience: Neil Saunders has an excellent post on parsing (i.e. processing a file to retrieve specific sections of interest). Neil's hints are a useful introduction for beginners, but also provide some handy reminders for long-time programmers.

Yesterday I discussed the decision of personal genomics company 23andMe to slash its price for a genome scan by 60%, to under $400. In the comments to that post, industry observer David Hamilton pointed me to an article he's written for BNET on the implications of 23andMe's price plunge, which (…

23andMe is one of three companies currently providing chip-based personal genomics assays, which provide information about up to a million sites of common variation throughout the human genome. These companies provide insight into a limited but informative slice of your genetic diversity, as I…

This little USB drive represents the current pinnacle of luxury personal genomics. It's the product of Knome (pronounced "know me"), a Cambridge, MA-based biotech start-up fronted by genomics pioneer George Church (recently profiled in Wired). In return for $350,000, Knome's customers receive a…

I have every intention of living forever, but I'm deeply aware of a number of factors that stand in my way. I'm not female, for a start; I wasn't born to a young mother; I enjoy my food far too much to ever consider caloric restriction; and I hate exercise with a passion. So right now my game plan…

Nature News has a special feature on "big data" - a broad look at the demands of the brave new world of massively high-throughput data generation, and the solutions adopted by research institutes and corporations to deal with those demands. The image to the left (from an article in the feature by…

Welcome to the new look Genetic Future, now hosted on ScienceBlogs. In around five years, a complete genome sequence will be readily affordable for most citizens of wealthy industrialised nations - even those of us on a researcher's salary. At the same time we will have access to vast amounts of…

Note: I'm splitting this off from my earlier post on 23andMe's encouragement of genetic testing of children, since I think this rather speculative argument distracts from the main point of that post. I mentioned in my previous post that there's a real danger that parents might try to use…