Sign in or Join FriendFeed
FriendFeed is the easiest way to share online. Learn more »


Open-access, open-data journal/database from the BGI and BioMed Central
Heading over to #Crossref14 If you can't join in person- check out Live Stream at
@m_j_chalmers You may have already had a play with it, but you can rotate & zoom to see bars, also tables & there is change color option!
New myocardial perfusion MRI dataset in #GigaScience with downloadable virtual machine testbed
Happy birthday #BioRxiv, & roll on the #preprint revolution! @newsfromscience BioRxiv at 1 year: A promising start
RT @SoftwareSaved: We’re need only one signature to bring our petition up to 2,000 signees!
The Firefly #RareDisease choir was a suitably inspiring way to close #IRDIRC. Thanks organisers for a great meeting!
Barend talking about BYOD (Bring your Own Data) parties. We've have a great experience trying this as well #IRDIRC
.@barendmons showing an example nanopublication query - can automatically validate a variant using both FANTOM5 & LOVD data #IRDIRC
.@barendmons promoting the FAIR principles. You can see them and comment on the @force11rescomm website #IRDIRC
.@barendmons: data needs to be FAIR: Findable, Accessible, Interoperable & Re-usable. Both for humans & machines. #IRDIRC
.@barendmons says his most notorious quote from 2005 was: "Text mining? Why bury it first & then mine it again?" #IRDIRC
MH on matchmaking scaling challenges: as we get more data will eventually have matches for every gene in genome. Which informative? #IRDIRC
MH gives DECIPHER stats: 12K families, >1300 users, 250 projects, 43 countries, 40K+ patient records, 15K publicly available (anon) #IRDIRC
Matthew Hurles talking on DECIPHER & datasharing: 10 years experience sharing rare disease data #IRDIRC
Clinicians on the front line don't have time for complex #NGS data. Tao Duan says he has to see on average 50 patients each morning! #IRDIRC
Tao Duan saying many overseas Chinese researchers coming back as grants for disease research on average double NIH, & easier to get #IRDIRC
Tao Duan asking "what do we want from the government" for #PIGD? Obviously he's asking for more Chinese licenses for DNA diagnostics #IRDIRC
Tao Duan was contacted because of this conference by a desperate mother who wanted to have a 2nd child without a rare disease #IRDIRC
Onto #PIGD now, with Tao Duan (Shanghai) "trying to find solutions" using prenatal diagnosis of rare genetic diseases #IRDIRC
Sarah Sawyer showing #NGS giving more precise, sometimes revised rare disease diagnosis. Sometimes expanding the phenotypic spectrum #IRDIRC
Sarah Sawyer showing examples of #NGS used to successfully detect previously missed ultra rare diseases (<5 patients in literature) #IRDIRC
In the diagnostics track this morning, Sarah Sawyer up now on diagnostic opportunities for raw diseases in the #NGS era #IRDIRC
Xue Yang: clinical genetics in China not yet an independent speciality. Mostly carried out by paediatricians & neurologists #IRDIRC
Up now in policy track is Segolene Ayme on how things work in Europe. She is EiC of fellow BMC journal OJRD #IRDIRC
Patient group asking Matthew Bellgard where if can access RDRF registry tools. Great to see #opensource #IRDIRC
Matt Bellgard made sure his registry platform & interoperable with EHR (electronic health record) systems (these have ISO standard) #IRDIRC
Matt Bellgard made sure his registry platform interoperable with EHR (electronic health record) systems (these have ISO standard) #IRDIRC
MB: 2nd gen registries now described in standardised computer readable text file, 209 lines of text (RDRF) #IRDIRC
MB: rare disease registry framework they've built has plug & play modules: base modules like patient details, molecular data, etc. #IRDIRC
Other ways to read this feed:Feed readerFacebook