An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Joined February 2013
- Tweets 2,308
- Following 563
- Followers 2,788
- Likes 452
432 Photos and videos
Pinned Tweet
5 Jan 2018
What is RD-Connect and how does it advance research on #RareDiseases? Watch our explanatory video youtu.be/pdMhAbFj42I
10
16
The data infrastructure is the backbone of @Solve_RD
🔹 RD-Connect GPAP @ConnectRD to collect & analyse 🧬 data
🔹 @EGAarchive to archive genomic data
🔹 Sandbox @molgenis: testing ground for data analysts to explore & apply novel tools
1
2
4
245
⏰ At 04:10PM, don't miss the session:
👉"Integration of phenotypic and genomic data for the diagnosis of rare conditions"
👩🔬By our Clinical Genomics Manager @LeslieMatalonga & our Data Analyst @SteveLaurie42
🔗veptc.variome.org
@VEPTCOURSE #genomics #genetics #training
1
1
245
14 Jun 2023
Join RD colleagues from across Europe for this workshop led by Sergi Beltrán, @LeslieMatalonga and @SteveLaurie42 to find out how the free to use RD-Connect GPAP can help you rapidly diagnose your RD patients.
7 Jun 2023
Learn about the benefits of using the RD-Connect Genome-Phenome Analysis (GPAP) platform for rare-disease analysis through a FREE @ejprarediseases Webinar!
📍Online
📅28 June 2023
🚨No registration needed!
ℹ️Eligibility & complementary information: ejprarediseases.org/event/ej…
6
7
823
A round table discussion on the future 🚀 of RD diagnostics in 🇪🇺 with @DariaJulkowska @timyu @SimonaBellagam2 Milan Macek, Olaf Riess, Christina Kyriakopoulou & our wonderful moderator Han Brunner concludes this very successful final Solve-RD meeting.
@HorizonEU @Holmson69
6
19
1,351
Solve-RD webinar on #Genomic data analysis using @ConnectRD GPAP by @LeslieMatalonga now online 👉 youtu.be/kVWxXMgCjL8
Learn how to navigate through the platform & how to use some of the advanced 🆕 functionalities to (re)analyse your cases!
@SteveLaurie42 #datasharing
4
8
1,023
3 Apr 2023
We are extremely happy to announce the new Genomic Analysis interface with improved user experience and new features!
👉Check it out here: platform.rd-connect.eu/#/gen… or learn more by joining the webinar organised by @Solve_RD!
Wed, 12 April 2023 at 1-2pm CT
us02web.zoom.us/webinar/regi…
5
10
1,308
Solve-RD webinar on genomic data analysis using @ConnectRD GPAP by @LeslieMatalonga: learn how to navigate through the platform and how to use some of the advanced 🆕 functionalities to (re)analyse your cases!
🗓️ Wed, 12 April, 1pm CEST
Register: us02web.zoom.us/webinar/regi…
1
12
13
1,479
The @ConnectRD GPAP, developed and hosted at @CNAGCRG, enables users to submit, share, analyse and interpret data contributing to diagnosis and gene discovery
It currently hosts phenotypic and genomic data from more than 26,500 patients and relatives!
🔗platform.rd-connect.eu
1
6
293
22 Feb 2023
Great to see so many people with different areas of expertise working together simultaneously to find new diagnoses for rare disease patients and their families. @Solve_RD has been a great success in fostering collaboration in RD across Europe.
🔛Our Solvathon kicks off @cnag_eu with 25 on-site 25 online participants trying to solve many #RareDisease cases by integrated omics analysis 👩🏽💻👨🏽💻🧬
@ConnectRD @vaym88 @gagneurlab @IonSynapse @ERNIthaca @ERN_RND @euro_nmd @EpiCARE_ERN @_ERNRITA @SteveLaurie42 @LeslieMatalonga
1
9
1,034
RD-Connect retweeted
1 Feb 2023
Get to know the @GA4GH #htsget implementation that enables @ConnectRD #GPAP users to visualize genomic alignments at the @EGAarchive remotely, in real time and without large downloads for clinical research and diagnosis 🔎🩺
27 Jan 2023
Remote Visualization of Local Genome Alignments Aids Pathogenic Variant Evaluation for Rare Disease. Researchers at Barcelona's CNAG-CRG are assessing variants in rare disease patients by linking them to alignments of "slices" of genomes and exomes... ow.ly/McHy104snwG
1
4
7
2,643
Did you miss our Solve-RD Treatabolome webinar? Here is the recording 👉 youtu.be/Za78K30aBCw
Learn how the database can help you to find a gene- or variant-specific #treatment for your #RareDisease patient.
@corvo_alberto @LeslieMatalonga @ConnectRD @rae_tee @LochmullerLab
1
5
7
596
Poster P13.050.D: Identification & characterisation of BMPR1A and SMAD4 germline variants in patients w/ colorectal adenomatous #polyposis.
➡️ Presented TODAY at #ESHG2022 poster session D by Solve-RD PhD student @an_somm_a from @UniklinikBonn.
#ERNGenturis @NicolineHoogerb
1
6
Workshop W11 on European Reference Networks #ERN at #ESHG2022:
📅 Monday, 13 June, 14:00-15:30 CEST
Solve-RD partner @SteveLaurie42 will give an overview of the main #research initiatives & outcomes involving ERNs in @Solve_RD.
@ConnectRD @cnag_eu @ERN_RND @ERNIthaca @euro_nmd
3
12
🆕 publication jointly initiated by @Solve_RD & @eurogentest: Recommendations for #WGS in #diagnostics for #RareDiseases.
👉🏽 rdcu.be/cND60
Endorsed by the Solve-RD Steering Committee, the representing #ERN s, European Board of Medical Genetics (EBMG) & @eshgsociety.
1
5
10
Not to miss ➡️ “The @ConnectRD Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases” outlining this collaborative resource developed at #CNAGCRG which has helped diagnose 100s of rare disease patients
onlinelibrary.wiley.com/doi/…
24 May 2022
Special Issue just released of @WileyBiomedical Human Mutation “Matchmaker Exchange: Seven Years of Discovery and Collaboration” guest edited by Drs. Kym Boycott, @AdaHamosh and @HeidiRehm
onlinelibrary.wiley.com/toc/… (1/18)
5
8
📢 #JobAlert #CNAGCRG
➡️ DevOps Engineer to participate in the definition and implementation of @ConnectRD GPAP and @3TR_IMI infrastructures. The work will be mostly geared towards the infrastructure needs of @genomed4all
ℹ️ cnag.crg.cat/jobs
3
2
🆕 Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes: a collaborative multicentre endeavour within the project Solve-RD.
@an_somm_a @itepaske1 @josegp_92 @LValleResearch @RMdeVoer @NicolineHoogerb #genturis
👇🏽
pubmed.ncbi.nlm.nih.gov/3528…
5
13
📢 #JobAlert #CNAGCRG
➡️ DevOps Engineer to participate in the definition and implementation of @ConnectRD GPAP and @3TR_IMI infrastructures. The work will be mostly geared towards the infrastructure needs of @genomed4all
ℹ️ cnag.crg.cat/jobs
2
1
25 Apr 2022
Great to hear many talks at the @Solve_RD AM detailing how cases were successfully solved using GPAP. Anne-Sophie Denomme (Dijon) detailing how periodic reanalysis looking for new variants in ClinVar in previously unsolved cases, has resulted in new diagnoses.
1
3
7
25 Apr 2022
... and how internal matchmaking (within @Solve_RD and @ConnectRD) and external matchmaking, with @decipher_wtsi @PhenomeCentral @GeneMatcher can help solve otherwise intractable cases by pairing similar, but physically remote, cases.
1
5