Joined February 2018
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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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14 Sep 2023
📣 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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13 Jan 2023
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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1 Dec 2022
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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5 Jan 2022
#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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29 Jul 2021
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…
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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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6 May 2021
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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