The Generation Study is a ground-breaking research study in partnership with the NHS which will sequence the whole genomes of up to 100,000 newborn babies and look for 200+ rare conditions in early childhood.
Find out more: https://t.co/rLJv2SJ6ya
@DHSCgovuk@NHSEngland
How can we increase gene coverage for developmental disorders in PanelApp?
Read the bioinformatics blog on how we used a gene panel from the Gene2Phenotype database to improve diagnosis for patients with developmental disorders.
https://t.co/SRTyX8LGF5
#Bioinformatics
📣 We have just signed off >100 new panels that relate to small and single gene tests included in the #RareDisease National Genomic Test Directory https://t.co/Fga131aHih
This means PanelApp will now display all gene panel tests that are available through the @NHSgms in England
How do we keep gene panels up-to-date? Catch the latest bioinformatics blog - https://t.co/k9uKRVW4p7 - to read how and why we renew our knowledge of rare condition genes.
@PanelAppTeam#bioinformatics#genomics#rareconditions
We’re thrilled to announce that we have signed-off new versions of #GenomicMedicineService gene panels ready to be applied in the analysis of @NHSEngland patient genomes @GenomicsEngland. Visit: https://t.co/Mz0t09Ra6S for more details.
The GenCC publication is now available in @GIMJournal! DiStefano et al. "The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources" https://t.co/FyTKwO43ta 1/6
We're now over 15,000 submissions to GenCC https://t.co/21yCaaaqN8 from 12 groups and just posted our first paper on medRxiv: https://t.co/b0hPMeEiu4 Thank you to all of the submitters who are generously sharing their gene-disease validity curations with the wider community!
A world-first scientific study, published today in @NEJM has shown that whole genome sequencing can uncover new diagnoses for people across the broadest range of #rarediseases investigated to date & could deliver enormous benefits across the @NHS. @QMUL
https://t.co/czkNLi8u4G
“We are delighted to have participated in this study with our Australian colleagues. They have been amazing at driving forward the content and functionality of Panelapp.”-Augusto Rendon, our Chief Bioinformatician.
@PanelAppTeam@PanelAppAus@AusGenomics
https://t.co/xcCAxwhAV5
Professor Sir Mark Caulfield will be leaving his role as Chief Scientist at Genomics England after July 21 to take up the position of Chief Executive at @ls_barts.
Sir Mark leaves an extraordinary legacy of scientific achievement at Genomics England.
https://t.co/bLFvdGTzI8
Can you help us find the last 600 people we need for our COVID-19 study? Thousands of people have already volunteered, we now need just 600 more. Is that you or someone you know?
Find out more and sign up: https://t.co/23MPnHx6af
#covid19study#coronavirus#covidpuzzle
We are excited to announce the launch of the NHS GMS Panels Resource: https://t.co/Fc95cLeZNU which offers a view of diagnostic-grade 'Green' genes/entities that have been approved for use in the NHS Genomic Medicine Service in England! @GenomicsEngland@NHSgms@NHSEngland