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648 posts

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@PanelAppTeam

United Kingdom Присоединился Şubat 2018

271 Подписки1.1K Подписчики

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Genomics England@GenomicsEngland·3 Eki

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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Genomics England@GenomicsEngland·3 May

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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None@PanelAppTeam·14 Eyl

📣 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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Genomics England@GenomicsEngland·6 Tem

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

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Genomics England@GenomicsEngland·2 Haz

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. @PanelAppTeam #bioinformatics #genomics #rareconditions

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None@PanelAppTeam·13 Oca

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

EMBL-EBI Training@EBItraining

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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None@PanelAppTeam·1 Ara

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.uk for more details.

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ClinGen@ClinGenResource·5 May

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/articl… 1/6

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None@PanelAppTeam·5 Oca

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

Heidi Rehm@HeidiRehm

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/10.1101/2022.0… Thank you to all of the submitters who are generously sharing their gene-disease validity curations with the wider community!

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Genomics England@GenomicsEngland·11 Kas

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-whole-gen…

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Genomics England@GenomicsEngland·1 Eyl

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.splashthat.com

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Genomics England@GenomicsEngland·11 Ağu

“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/panelapp-at-th…

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Prof Zornitza Stark@ZornitzaS·11 Ağu

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 🇦🇺🇬🇧

Genomics England@GenomicsEngland

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Ellie McDonagh@EllieMcDonagh·29 Tem

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/1dUcJgeW~ih0

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Prof Zornitza Stark@ZornitzaS·30 Tem

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/…

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Australian Genomics@AusGenomics·30 Tem

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/…

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None@PanelAppTeam·29 Tem

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/articl…

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Genomics England@GenomicsEngland·1 Tem

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/professor-sir-…

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Genomics England@GenomicsEngland·20 May

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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None@PanelAppTeam·6 May

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! @GenomicsEngland @NHSgms @NHSEngland

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@DHSCgovuk @NHSEngland @NHSgms @GenomicsEngland @GIMJournal @NEJM @NHS @QMUL