Top Tweets for #solverd
📊A semi-automated mtDNA-filtering pipeline combined with MitoPhen-based HPO phenotype similarity scoring was applied to a large cohort of undiagnosed rare disease patients, increasing the diagnostic yield by 0.4%.
#SolveRD #mtDNA #RareDisease
Read more:
https://t.co/aUW9u984PO
Seguimos! Acabamos la instalación de 90 paneles e inversor de 50 kw en el edificio del Consell Comarcal de L’Alt Camp en Valls (Tarragona).
#SOLVERD #fotovoltaica #aerotermia #cargadores #ingenieria #instaladores
#RareDiseases
Tremendous effort! #SolveRD forging new paths and showing the power of genomic data sharing and team work across borders!
Looking forward to what our efforts in @CoRE_GHA will bring with partners @ahoischen @LisenkaVissers
Congrats to all! @SteveLaurie42
It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses”
https://t.co/fSU1h9TDoR
A thread (1/n)
Great promise for the future!
With increasing scalability and dropping prices - HiGi genomes may become a first-tier generic test for almost all rare diseases.
#LongReadGenomes #RareDisease
#ERDERA #SolveRD
#ESHG2024
Another one of our #undiagnosed #raredisease heros @SteveLaurie42 presenting on #SolveRD collaborations leading to new diagnoses.
"Collaboration, collaboration, collaboration!"
Agreed!
#ESHG2024
Another #undiagnosed #raredisesse hero @SteveLaurie42 presented on #SolveRD's successes in genome sequencing of previously undiagnosed
"Collaboration, collaboration, collaboration!"
Agreed!
#EJPRD #Training on strategies to foster solutions of #undiagnosed #RareDisease cases
#Rome 13-15 #March
@istsupsan
REGISTRATION OPEN for reserve list
Don't miss the opportunity❗️
✍️https://t.co/rezIg0OnYP
ℹ️ https://t.co/tEDqADK3BZ
#UDNI #solveRD #ICORD #ERNeu #malattierare
#EJPRD #Training on strategies to foster solutions of #undiagnosed #RareDisease cases
#Rome 13-15 #March 2024 in person
@istsupsan
REGISTRATION OPEN until January 14, 2024❗️
👉https://t.co/rezIg0OVOn
ℹ️ https://t.co/tEDqADKBrx
#UDNI #solveRD #IRDiRC #ICORD #ERNeu #malattierare
Estiu!! Contents de què tots els nostres clients tinguin la seva instal.lació fotovoltaica a màxima producció!
#SOLVERD #ingenieria #instalador #fotovoltaica #aerotermia #solartérmica
🕰️Segona hora
🎙️L'esport de viure millor amb Pere Portero i Marta Portero #Neurociencies
🎙️#ResponsabilitatCompartida amb @marionahuguet i #SolVerd
🎙️Diari de Bord @Marinasalvadr
👉https://t.co/NG7ar1HDoZ
Happy and proud to have received the Solve-RD best Flash Talk Award in Prague!
Could not have achieved this without the invaluable contribution of the many SPTAN1 collaborators and dear colleague Liedewei Van de Vondel. #solveRD #FlashTalk #AwardWinningTeam #LiedeweiVdV
big #SolveRD|collaborative paper with 6 shared first authors and 6 shared last authors soon to by published.
Is there a preprint somewhere @ahoischen ? Asking for a friend who cant wait to read more and has ~4 h to spent in a train to @hug_leipzig today
@RMdeVoer @LeslieMatalonga @Solve_RD Vicente A. Yepez from @gagneurlab leads us through their approach to add the value of RNA-seq to #SolveRD.
Now Thiloka Ratnaike @LankanMiller from @HorvathLab gives an update on the The MitoPhen Database and how it helped to find diagnosis in the #SolveRD|data set. What a great tool to find clinical information for variants in mitochondrial disorders @Solve_RD
https://t.co/CVr04hWBrd
'The burden of titin variants on genetic counselling'...at @Solve_RD #solverd #rarediseases #titin #titinopathies
Congratulations to our researcher @MorleoManuela that was awarded a Travel Grant to attend to the #SolveRD Final Meeting in Prague!
Solve-RD is a Programme funded by UE to solve undiagnosed cases of genetic diseaes.
learn more here:
https://t.co/ujD742yBwD
@Solve_RD
This #solveRD 'Solvathon' was an intense and fruitful event. Many exciting candidates pathogenic events using RNA-seq. Great team work @vaym88, @chr_mertes, Cenna Cornboos, Anna Esteve, Shubhankar Londhe, @pacthoen and all our very engaged attendees.
#Today, #February 15, 2023, Last day to register ‼️
👉https://t.co/wOkYn01DJX
#EJPRD "#Training on #strategies to foster solutions of #undiagnosed #RareDisease cases" ❗️
3-5 April 2023 in person
@istsupsan
ℹ️ https://t.co/M7TRATu8PH
#malattierare #UDNI #solveRD
#SolveRD Reanalysis of unsolved exomes and genomes Solving the unsolved #rarediseases 10% additional accuracy attained. @HeleneLBorgne @eurordis #RareEU #RareDiseaseWeek #CoffinLowry @sallsynt
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