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🧬New rare disease solved ! Happy to share our latest work on the developmental disorder associated to a recurrent missense variant in FEM1B (1/5) sciencedirect.com/science/articl…

Dr Saghira Malik Sharif Melody Redman Mohammed Zubair Butt Leeds Clinical Genetics Thank you for your work over many years on this - you are a great advocate for patients and families

Psycho killer. Qu'est-ce que c'est?

An important update from Rob Taylor, Sian Ellard, and Emma Baple providing the ACGS position statement on rare disease diagnostic genomic testing in the UK and Ireland. #ACGS2024 Taylor Lab Sian Ellard Exeter Rare Disease

A wonderful day in Taunton spreading the Genomics love to SW healthcare scientists and hearing lots of inspirational talks. NHS SW Genomic Medicine Service Alliance South West Genomic Laboratory Hub

I had several Amigas through the early 90s and don’t remember the 87 version at all. I think they all had the 85 typography.

Why I'm so irritated by the Conservatives' attack on Starmer for work-life balance: it's just one of a host of examples of real improvements in UK living standards that don't cost, opposed by the less-enlightened. See this chart, others that follow: 1/

One of my least favorite journalistic tropes in the world is asking politicians if they know how much a loaf of bread, pint of milk etc costs. Stupid meaningless gotcha-ism. I’m not sure I could tell you either.

Just voted. Turnout low and polling station staffed entirely by bewildered primary school children. Make of that what you will.

I wrote about the latest attempt to sell genetic IQ prediction and why it is snake oil. A short 🧵:

Well yeah this is great but, erm, it has big gaps where water can get through?

Really welcome change, this is a fantastic dataset now on the UK’s (maybe the world’s?) premium clinical genomics browser, enhancing the interpretation of CNVs in array and WGS testing.

Really great story! I didn’t knit the aftermath of “Eric the Eel”’s Olympic journey until today.

This has taken years off my life and it’s finally out! Couldn’t have done it without Moin Saleem @wenwyd20 Ania Koziell and the long suffering Aga! Thank you! nature.com/articles/s4159… BAPN

Classifying genomic variants? Have case control data for PS4? Try our new tool, the PS4-Likelihood Ratio Calculator (turnbull-lab.shinyapps.io/ps4_lrcalc/). jmg.bmj.com/content/early/… Allows user to define the odds ratio (representing anticipated underlying strength of disease association

And this isn’t at all dangerous or ethically questionable…

Nearly a clean sweep of the top five for ⁦Nick Lutsko⁩ … open.spotify.com/wrapped/share/…

So you’re telling me, after nearly quarter of a century of GWAS, after which they’ve discovered not very much about human heritability, that GWAS outcomes are mostly noise? That is… somewhat predictable, I guess (p < 5 × 10−8).