We are excited to announce the launch of the NHS GMS Panels Resource: nhsgms-panelapp.genomicsengland.co.uk which offers a view of diagnostic-grade 'Green' genes/entities that have been approved for use in the NHS Genomic Medicine Service in England! Genomics England NHS Genomic Medicine Service NHS England

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: covid.genomicc.org #covid19study #coronavirus #covidpuzzle

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 Barts Life Sciences. Sir Mark leaves an extraordinary legacy of scientific achievement at Genomics England. genomicsengland.co.uk/professor-sir-…

Hot off the press AJHG! Come read our new publication about using the PanelApp platform to harmonise gene panels between None Genomics England and PanelAppAus Australian Genomics. sciencedirect.com/science/articl…

It is great to see our Genomics England PanelApp GA4GH collaboration with Prof Zornitza Stark Australian Genomics come to fruition in AJHG: together we share gene-disease Int Soc Biocuration efforts with the world for enhanced patient diagnoses: authors.elsevier.com/c/1dUcJgeW~ih0

Our latest ⁦AJHG⁩ sharing tools & knowledge improves gene & panel curation! Very proud of this #collaboration ⁦Ellie McDonagh⁩ ⁦None⁩ ⁦PanelAppAus⁩ ⁦Genomics England⁩ ⁦⁦Australian Genomics⁩ ⁦GA4GH⁩ 🧬🌏 cell.com/ajhg/fulltext/…

Just out in AJHG: collaborative effort between PanelAppAus Australian Genomics and None Genomics England highlights the benefits of a shared, evidence-based approach to gene and panel curation cell.com/ajhg/fulltext/…

“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. None PanelAppAus Australian Genomics genomicsengland.co.uk/panelapp-at-th…

And #thankyou Genomics England @augustorendon None Ellie McDonagh for so generously helping us set up PanelAppAus Australian Genomics and #thankyou Richard Scott for having me on #sabbatical Genomics England when such things were possible 🇦🇺🇬🇧

Join us for our virtual #GEInnovation21 event (29 Sep) discussing key factors impacting the future of #genomichealthcare. Sessions address awareness of #genetics and the challenges of #data #diversity, #cancer, #COVID19, #newbornscreening & NHS Genomic Medicine Service. gelinnovationshowcase21.splashthat.com

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. Queen Mary University of London genomicsengland.co.uk/100k-whole-gen…

#PanelApp pleased to contribute towards this collaborative curation effort for harmonising gene-disease assertions

The GenCC publication is now available in Genetics in Medicine! DiStefano et al. "The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources" sciencedirect.com/science/articl… 1/6

We’re thrilled to announce that we have signed-off new versions of #GenomicMedicineService gene panels ready to be applied in the analysis of NHS England patient genomes Genomics England. Visit: panelapp.genomicsengland.co.uk for more details.

Want to learn more about #biocuration? Check out these short videos by EMBL-EBI and the course they are offering on Practical Biocuration in May

How do we keep gene panels up-to-date? Catch the latest bioinformatics blog - ow.ly/oP6Y50OCLW0 - to read how and why we renew our knowledge of rare condition genes. None #bioinformatics #genomics #rareconditions

Thank you to everyone who's joined us on this journey 🧬 #ourDNAdecade

📣 We have just signed off >100 new panels that relate to small and single gene tests included in the #RareDisease National Genomic Test Directory orlo.uk/GF5eU This means PanelApp will now display all gene panel tests that are available through the NHS Genomic Medicine Service in England

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. ow.ly/tt8y50Rur8l #Bioinformatics

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: ow.ly/RVuJ50TBVQf Department of Health and Social Care NHS England