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onlinelibrary.wiley.com/doi/abs/10.111…

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay dlvr.it/T3RB8q

To WES or not to WES? Our first podcast of 2024 looked genome sequencing for newborn screening. However, we had already asked: "To WES or not to WES?" Listen on Apple: podcasts.apple.com/gb/podcast/to-… Soundcloud: soundcloud.com/user-109006120… #newbornscreening #genomics Nature Medicine

What is a variant of uncertain significance? Helen Brittain explains what significance means in relation to gene variants 🧬 Tune in to our latest podcast short, which explains variants of uncertain significance in less than 10 minutes. 🎙️Listen here: ow.ly/5gLf50QMmZz

Our online learning hub for the specialist genomics workforce is underway. The Genomics Training Academy (GTAC) team has been developing educational frameworks, mapping curricula and designing courses for #NHSgtac – from lectures to VR to workshops.  orlo.uk/f9gTo

The hereditary breast & ovarian cancer genetic testing best practice guidelines are now published 🎉🧬@EMQNOffice @MirandaDurkie Clare Turnbull- Prof/NHS Dr Helen Hanson & all of the authors rb.gy/yzor56

Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency dlvr.it/T453Gj

🚨 New FBN1 findings: Two missense variants lead to opposing phenotypes, suggesting distinct impacts on TB5 🤔🧬▶️ bit.ly/4amWt6p FBN1 gene variants are linked to Marfan syndrome, but when present at the TB5 domain of FBN1 associate w/ geleophysic/acromicric dysplasias

Yuyang identified a highly recurrent de novo variant in Genomics England, in 46 individuals, all with undiagnosed NDD. It was not in any diagnosed probands, or unaffected individuals in GEL. It is absent from population cohorts, apart from a single individual in UK Biobank. 3/n

We're hiring! CAS Genomics is looking to recruit an Informatics Lead as an integral member of the team, contributing to the strategic direction of the GMSA and the genomic data and digital programme within the region. More info and application here 👇 jobs.nhs.uk/candidate/joba…

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to Unique (Sarah Wynn).

Nice end to the week - another paper out! Lovely work from Robin Beaumont looking at clustering of predicted loss-of-function variants in UK Biobank; explains incomplete penetrance in some dev disorder genes. genomemedicine.biomedcentral.com/articles/10.11…

We've just published May's edition of our newsletter - learn more about our work embedding #genomics into everyday healthcare!🧬#DNA #Genetics mailchi.mp/1ec153124311/c…

CRISPR therapy restores some vision to people with blindness go.nature.com/4afU1hG

#AlphaMissense scores from Google DeepMind are now displayed on @Ensembl #VEP annotation tabs - these scores categorise single nucleotide missense variants as either likely pathogenic or likely benign EMBL-EBI #genomics pic.x.com/ZdIHOLqeuJ

Pls Rt & pass onto any prospective MSc students If you are interested in #bioinformatics and want to use it in a future career then consider this course 👇 You'll study in a world-class environment and use real-life cutting-edge data sets You also get taught by me 😁

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

First newborns join screening for 200 rare diseases bbc.in/3XTFCUa

Our new research article is out in European Journal of Human Genetics! rdcu.be/d1rI4. Inside we explore the congenital heart disease cohorts of the 100,000 genomes project. Colin A Johnson Sunayna Best Steph Baross Jenny Lord Keavney Lab Gavin Ryan Jacqueline Eason @kathrynhentges

GenROC has been open for almost 2 years. We will close to new participants in 4 days but there is still space so don't miss out....And you have until the end of March to complete questionnaires