#GenomicsEngland
👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏

👉Best practice examples and 12 actions we can all take together

👉 https://rdcu.be/dWfsu

@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
December 20, 2024 at 11:03 AM
Dalia Kasperaviciute
@GenomicsEngland
#ESHG2025

Early results from the Generation Study: genomic NBS in 100,000 newborns

- 10,000 recruited
- 4% => scientist review
- 27 => diagnosed
- 6 confirmed clinically
- 1 refuted was AR in cis
- TAT 3-4 weeks
May 24, 2025 at 3:59 PM
Really excited, exhausted and relieved to finally be able to share the results from an analysis of the @GenomicsEngland 100,000 Genomes Project dataset.

Here's a link to free access to the manuscript:
authors.elsevier.com/a/1l8iU3vlFV...

see below 🧵for main outcomes
authors.elsevier.com
May 27, 2025 at 3:10 PM
I want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!
December 17, 2024 at 4:12 PM
Allen voran England. GenomicsEngland hat schon vor Jahren 100 000 Genome sequenziert, die der Forschung nun seit 2020 in der National Genomic Research Library  zur Verfügung stehen. Unter kontrolliertem Datenzugang.

www.genomicsengland.co.uk/initiatives/...
100,000 Genomes Project
Information on the 100,000 Genomes Project, including an overview of the project, participant resources, getting results, and additional findings from the project.
www.genomicsengland.co.uk
February 16, 2024 at 5:31 PM
Cancer driver genes and opportunities for precision oncology revealed by whole genome sequencing 10,478 cancers
#preprint #GenomicsEngland
assets.researchsquare.com/files/rs-338...
October 19, 2023 at 5:38 PM
Whole-genome sequencing uncovers the genomic determinants of therapeutic resistance to immune checkpoint blockade [preprint by GenomicsEngland team]
www.researchsquare.com/article/rs-3...
October 1, 2023 at 1:33 AM
PET’s Director Sarah Norcross has written a commentary piece discussing the UK Government’s plans to offer whole genome sequencing for all newborns as part of a ten-year health plan.

Read more: www.progress.org.uk/sequencing-t...

#Genomics #TenYearPlan #UKGovernment #GenomicsEngland
June 24, 2025 at 11:46 AM
How do you explain genetic research simply?

On top of that, how do we explain how geneticists are analysing genetic data differently to account for equality, diversity and inclusion?

Find out more about how we helped @GenomicsEngland do just that - www.niftyfoxcreative...
February 3, 2025 at 7:16 AM
New study reveals ATRNL1's key role in atrial fibrillation. Using single-nuclei RNA-seq, researchers identified its impact on cardiac conduction. Could ATRNL1 be the next therapeutic target for AF? doi.org/10.1038/s414...
#genetics #AF #UKBiobank #AllofUsResearch #GenomicsEngland #scRNAseq
November 20, 2024 at 6:12 AM
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability - Nature Genetics

#UKBiobank #AllofUsResearch #GenomicsEngland
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability - Nature Genetics
Phenome-wide analysis in the UK Biobank identifies GC-rich tandem repeat expansions associated with a range of traits, including a GCC expansion in AFF3 contributing to intellectual disability.
buff.ly
November 20, 2024 at 8:14 AM
Drugs companies unite to mine genetic data: http://on.ft.com/1BMXHzv @genomicsengland
Drugs companies unite to mine genetic data
Pharmaceuticals groups form partnership to assist UK gove...
on.ft.com
December 6, 2024 at 1:23 PM
The extraordinary rise of #BigData in genomics @naturenews http://www.nature.com/nature/journal/v527/n7576_supp/full/527S2a.html @GenomicsEngland
Big data: The power of petabytes - Nature
Researchers are struggling to analyse the steadily swelli...
www.nature.com
December 6, 2024 at 12:58 AM
December 2, 2024 at 2:01 PM
A recording of PET’s event in partnership with Our Future Health - ‘Our Future Health, UK Biobank, Genomics England: Exploring the Impact’ - is available now to watch!

To watch this film for free, click the link ⬇️
www.progress.org.uk/film-our-fut...

#OurFutureHealth #UKBiobank #GenomicsEngland
June 24, 2025 at 11:57 AM
Proud to have helped represent #patientvoice in #raredisease at the Festival of Genomics and Biodata last week thanks to the #Eppigen research project kindly funded by @wellcometrust and also as part of the @genomicsengland #participantpanel
February 4, 2025 at 4:40 PM
One model per experiment is the Kundaje way (model zoo? model herd?) and then does things like backpropagation for sequencing interpretation via DeepLIFT - being ported by AlphaGenome (editorial - need to get this going with things like GenomicsEngland). Has an example with Myc.
May 27, 2026 at 1:47 PM
Finally, thank you to patients that share samples/data, colleagues, collaborators @GenomicsEngland @HartwigMedical

And our generous funders 🥹
@cancerresearchuk.org
@nihr.bsky.social
@bcrfcure.bsky.social
#JosefSteiner #GrayFoundation
🙏💕
that enable us to do our research!

/end
April 10, 2025 at 6:05 PM
Finally, the paper demonstrates a role for variants in RNU5B-1 in NDD. In our initial RNU4-2 paper, we (@quenchentin ) noted 3 de novos variants in a highly constrained region of RNU5B-1 in @GenomicsEngland 100k project data...
6/9
October 9, 2024 at 9:44 AM