A paper out in PLoS Genetics this week takes a step towards using genome-wide association data to reconstruct functional pathways. Using protein-protein interaction data and tissue-specific expression data, the authors reconstruct biochemical pathways that underlie various diseases, by looking for variants that interact with genes in GWAS regions. These networks can then tell us about what systems are disrupted by GWAS variants as a whole, as well as identifying potential drug targets. The figure to the right shows the network constructed for Crohn’s disease; large colored circles are genes in GWAS loci, small grey circles are other genes in the network they constructed. As an interesting side note, the GWAS variants were taken from a 2008 study; since then, we have published a new meta-analysis, which implicated a lot of new regions. 10 genes in these regions, marked as small red circles on the figure, were also in the disease network. [LJ]
23andMe customers will be interested in a neat little FireFox plug-in that allows them to view their own genotypes for any 23andMe SNP mentioned on a web page. You can download the plug-in here (you’ll need to have an up-to-date version of FireFox), and I have a brief review of the tool here. [DM]
Continue reading ‘From GWAS to pathways, the consequences of DTC genetics and screening by sequencing’
Thanks again to the more than 250 of you who completed our reader survey a couple of weeks ago. We reported the basic demographics of readers in a post last week, and promised you some more detailed analysis this week – particularly of the two questions where we gave people the option of adding their own thoughts as free text.
There’s no way we can present every nugget of interesting information emerging from the survey, but we thought it was worth digging into a few of the more obvious or unexpected features of the data. Firstly, a little additional analysis of the more quantitative data emerging from the survey.
Continue reading ‘Reader survey results: digging a little deeper’
Thanks to everyone who participated in last week’s reader survey, which is now closed. We received 252 responses (excluding Genomes Unzipped members), which is fantastic. I’ve made an anonymised version of the results (with names, email addresses and all free-text fields removed) available here.
We’ll be breaking down the data over the next week or so, but I wanted to draw attention to some of the more interesting immediate findings here. Please bear in mind that this was not a scientific survey, and the respondents are a wildly biased sample from the general population, so the results are absolutely not representative of the broader population.
Continue reading ‘Reader survey results’
The survey is now closed – we’ll be reporting the results soon.
Welcome to the first ever Genomes Unzipped reader survey: we would be very grateful if as many of our readers as possible fill this out. We’ve got a set of demographic questions, some questions about your own experience with personal genetics, and a few questions about controversial topics. As well as it being generally interesting to know who our readers are, and what their views and experience are, the results of this survey will also ensure that we can write posts that are interesting and relevant to as many of our readers as possible. It should take around 5-10 minutes to complete.
Thank you to everyone who suggested questions for the survey; we’ve included some of the suggestions, though there were many more interesting questions that we didn’t have space for. If the response to this survey is good, we will consider doing more detailed reader surveys in the future (for instance, a “GNZ Readers’ Opinions on Regulation” survey).
Genomes Unzipped is a young project, and we’re still getting the hang of this whole group blogging game. One thing we’d like to understand more about is you, our readers: how did you find us, why are you reading, and what would you like to hear more about as the project moves forward?
We’re thus currently putting together the inaugural Genomes Unzipped Reader Survey. However, we don’t want this to be just an exercise in collecting demographics – we’d also like to seize the opportunity to ask more interesting questions about your views on the broader issues around personal genomics, genetic genealogy, genetic privacy, and the future of personalised medicine.
We also want to ask questions that interest you. So here’s your chance to get involved: propose a question in the comments section, and if we like it we’ll be including it in the reader survey later this week.
Here’s what we currently have on the Genomes Unzipped virtual whiteboard, in addition to the standard demographic questions:
Continue reading ‘What questions should we ask in our reader survey?’