One of my favorite Twitter threads in recent memory! Used to be a lot more of this sort of content before the bots and assorted crap took over.

Exome sequencing is as good as microarrays for finding pathogenic copy number variants! Evidence is very clear from DDD study & supports replacing current 2-step diagnostic process with single genome-wide sequencing approach for dev disorders. news.exeter.ac.uk/faculty-of-hea…

🧬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…

Well worth your time over lunch next Wednesday if you’re interested in how we’ve clarified and adapted the ACMG variant interpretation guidelines for the UK healthcare setting.

Busiest day ever yesterday for the South West Genomic Laboratory Hub whole genome sequencing service. 33 cases due on one day, all went out on time. Our excellent WGS team smashing it as usual and providing a great service for our patients and users!

Forced to work in the rain unnecessarily? Join a union.

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 Wen Ding 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