Month: July 2014

Survey: Genomic Data Access and Sharing

How do you make genomic data available? Genomic research is progressing more rapidly than ever before, as are the workflow habits and preferences of researchers. The question regarding the sharing of genetic data is the one that we at the DNAdigest team are trying very hard to answer. In order to gain an insight in to how researchers access and share genomic data, we have launched a survey that will ultimately further our aim of advancing genomic research by promoting efficient and ethical data sharing. So if you are a researcher who uses human genomic data and you are directly affected by the difficulties of accessing and sharing this data, it will be highly appreciated if you take part in DNAdigest’s survey. You can also have a say here and help us find out what the biggest problems regarding it are. DNAdigest Survey is online now! The Survey has a unique functionality which will allow you to go through it very quickly. It will not take more than 4-5 minutes of your time for filling it in. The outcomes will be published and shared with genomic research community, but your individual responses will be kept confidential. Thank you a lot in advance for your responses! Your participation is […]

hack day

DNAdigest Fourth Hack Day

Our Fourth Hack day will be held on the 02/08/14 at 9:30am at the Future Business Centre, King’s Hedges Road, Cambridge, CB4 2HY. Check this map for directions.  The schedule is now available online here. You can also take a look at what we managed to do on our previous Hack Day or explore the storify page of the event. At this the upcoming brainstorm session we will further develop the Data Discovery tools for genomics research using metadata to make data discovery faster, benefiting researchers by accelerating the initial steps of data access.  Join us on the Hack Day by signing up here Hackpad will be our tool of choice for notetaking/collaborating during the day, and we encourage everyone to join with their notes and comments. You are very welcome to tweet and track the progress using our hashtag #DNAhdFor the technically minded, we suggest you bring your laptop. For those more interested in discussions and paper prototyping, just bring your brains and enthusiasm, and we will provide paper materials. There will be lunch and tea/coffee breaks during the day. Don’t Forget to Signup to the event through our eventbrite page on dnadigest4hd.eventbrite.co.uk DNAdigest team is really looking forward to seeing you in Cambridge!

Genomic Privacy: the Rise of New Research Community

 Genomic Privacy and the Rise of a New Research Community When genomic is mentioned, most people think about huge, heavily-funded international consortia, such as the Human Genome Project. Nowadays, sequencing platforms are readily available meaning that individual labs can actually sequence whole genomes (Whole Genome Sequencing or WGS). For the research in genomics, collecting of a large number of digitalized genomes is of a great importance. As the prices of full sequencing goes down the personalised medicine becomes more and more popular. Of course, the availability of this data will help clinicians run complex tests regarding a patient in a matter of seconds. However, there are issues regarding the privacy due to the unprecedented sensitivity of the genomic data. Lots of funding agencies have now introduced requirements for data sharing while the Personal Genome Project intent to create a dataset of volunteers’ sequenced genomes and make it public for research purposes. However, there are a lot of arguments whether this should be done. Recently Erman Ayday and colleagues created an article stating that the consequences of genomic data disclosure aren’t limited in time and also it reveals a huge amount of information about one’s relatives due to its hereditary nature. This means that […]

Canadian Open Genetics Project (COGR)

Canadian Open Genetics Repository (COGR) is the creation of a unified, open-access, clinical-grade genetic database. The project is to last three years and is funded by the government of Canada through Genome Canada and the Ontario Genomics Institute. It is great to see data access issues in genetics research being addressed by national governments. 

hack day

Summary of Our Previous Hack Day – 4th April

Soon (August 2nd) we are going to have our fourth Hack Day. As the time is passing and we are getting closer and closer to it, we have decided to remind you how the participants of our last event brainstormed and came up with new ideas and plans. I suggest you take a look at the Summary of our previous Hack Day that was focused on developing Data Discovery tools for genomic research. We are very excited about the upcoming Hack Day where we will further develop the ideas and prototype Data Discovery tools to support the work of genetics research. You are very welcome to join us. The tickets are free and there will be a nice lunch. Detailed agenda is being prepared and will be available very soon. We are looking forward to seeing you in Cambridge. 🙂

genetic alliance annual conference. photo of Alistair Kent giving the closing remarks

2014 Genetic Alliance UK Annual Conference

‘Genomic Sequencing; why it is important and how it can help you?’ was no small topic for the 2014 Genetic Alliance UK annual conference. The event called together everyone from researchers to those directly affected by genetic disease. And it was not just the audience that was diverse. With journalist and broadcaster Vivienne Parry, Mark Bale from the Department of Health, and Edward Sherley-Price, the parent of a child recently diagnosed with a genetic disease, all taking to the stage to speak it seemed almost every angle of this debate was covered. So, why is genomic sequencing important? Vivienne Parry, on her whirlwind history of medicine, used the analogy of the Milky Way. Everything is arranged in complex networks and this is why whole genome sequencing is important. From a single lung disease a patient will present completely differently depending on whether they are young or old or overweight, to name just three of the most obvious factors. We cannot isolate and compartmentalise disease as we have tried in the past. Medicine today, unlike in the 15th century (where bloodletting was as high tech as it got), is not limited to treating symptoms. We are increasingly able to deal with […]

Bioinformatician Briefing Note

The PHG Foundation has issued a bioinformatician briefing note. Now available online, it explores big data and the effects of its implementation on healthcare.  With bioinformatics increasingly becoming an integral part of numerous fields, including healthcare, this briefing note is an important document. For anyone who has ever wondered what the role of a bioinformatician actually is, here is the answer (and some nice flow charts). For more background click here.

Cambridge Healthtech Institute Podcast

The Cambridge Healthtech Institute’s Inaugural Inherited Disease Diagnostics Conference isn’t taking place until 19-20 August but you can already listen to this Cambridge Healthtech Institute podcast which gives an idea of what you can expect. Dr Bruce Korf (University of Alabama) speaks about the integration of genomics into medical practice and some of the educational challenges it presents. He will be speaking at the conference in Washington as part of theNext Generation Dx Summit where he will be sharing strategies for the new paradigms needed to help providers gain competency in the use of genomics in their practice.

Paper money with pound coins stacked on it.

Science Funding: Big Data, Big Spending?

The UK government has committed to spending almost six billion pounds on research infrastructure over the next 5 years. Investments of £1.1 billion per annum from 2016 to 2021 mean the potential to reshape science research infrastructure and secure the future of the UK as a knowledge-based economy. But lets not get too excited just yet. Of course it all depends on how the money is spent. With competing interests and many projects, new and old, vying for a slice of the funds, the billion pound investment can only stretch so far. In recent years prominent scientists have spoken out about (and against) the way science funding is allocated. With media pressure continuing to rise with the increase in online social platforms it seems that the projects that can grab headlines are doomed to be favoured over less ‘glamorous’ options. Yet we have the opportunity to have our own say, to ignore media hype and to comment on what really matters. The Department for Business Innovation and Skills (BIS) has launched a consultation exercise to gather a wide range of views. Science is truly a field that affects us all, however, it is plagued by a lack of public scientific […]

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