United Kingdom
Joined February 2018
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 @DHSCgovuk @NHSEngland
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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
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📣 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 @NHSgms in England
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Thank you to everyone who's joined us on this journey 🧬 #ourDNAdecade
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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
What is a #biocurator? Michele Magrane, @uniprot Annotation Coordinator at @emblebi explains how vital and useful this role is to scientists across #lifescience research. #biologicaldata #accessibledata #dataintegration #datacuration #datascience #opendata #openscience
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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: panelapp.genomicsengland.co.… for more details.
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The GenCC publication is now available in @GIMJournal! DiStefano et al. "The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources" sciencedirect.com/science/ar… 1/6
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#PanelApp pleased to contribute towards this collaborative curation effort for harmonising gene-disease assertions
We're now over 15,000 submissions to GenCC search.thegencc.org/ from 12 groups and just posted our first paper on medRxiv: doi.org/10.1101/2022.01.03.2… Thank you to all of the submitters who are generously sharing their gene-disease validity curations with the wider community!
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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 genomicsengland.co.uk/100k-w…
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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 & @NHSgms. gelinnovationshowcase21.spla…
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“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 genomicsengland.co.uk/panela…
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And #thankyou @GenomicsEngland @augustorendon @PanelAppTeam @EllieMcDonagh for so generously helping us set up @PanelAppAus @AusGenomics and #thankyou @Rich_Genomics for having me on #sabbatical @GenomicsEngland when such things were possible 🇦🇺🇬🇧
“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 genomicsengland.co.uk/panela…
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It is great to see our @GenomicsEngland @PanelApp @GA4GH collaboration with @ZornitzaS @AusGenomics come to fruition in @AJHGNews: together we share gene-disease @biocurator efforts with the world for enhanced patient diagnoses: authors.elsevier.com/c/1dUcJ…
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Our latest ⁦@AJHGNews⁩ sharing tools & knowledge improves gene & panel curation! Very proud of this #collaboration ⁦@EllieMcDonagh⁩ ⁦@PanelAppTeam⁩ ⁦@PanelAppAus⁩ ⁦@GenomicsEngland⁩ ⁦⁦@AusGenomics⁩ ⁦@GA4GH⁩ 🧬🌏 cell.com/ajhg/fulltext/S0002…
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Just out in @AJHGNews: collaborative effort between @PanelAppAus @AusGenomics and @PanelAppTeam @GenomicsEngland highlights the benefits of a shared, evidence-based approach to gene and panel curation cell.com/ajhg/fulltext/S0002…
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Hot off the press @AJHGNews! Come read our new publication about using the PanelApp platform to harmonise gene panels between @PanelAppTeam @GenomicsEngland and @PanelAppAus @AusGenomics. sciencedirect.com/science/ar…
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. genomicsengland.co.uk/profes…
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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
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We are excited to announce the launch of the NHS GMS Panels Resource: nhsgms-panelapp.genomicsengl… 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
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