Just passed 18 hrs at Heathrow Airport. Minus the ~1 hr we up in the air yesterday before circling back and landing again at Heathrow. A great way to spend a Bank Holiday...

New plane boarding - wish me luck!! 🍀🤞🇮🇹

Delighted that this work is now published Genome Biology and available at link.springer.com/article/10.118…

Today is a day for all those people who have yet to receive a diagnosis for themselves or their child. It can be a difficult place to be, but luckily there is a fabulous organisation SWAN UK (syndromes without a name) who can help! #udcd2024

Last chance to register for our online course! All lectures will be online next week (and remain online for several months). You can use a chat to ask questions to lecturers.
Only 50€ registration cost - for a world class line-up of speakers.

eshg.org/bertinoro0-1

Recently out on #bioRxiv : our updated approach to identify regional variability in missense mutation intolerance (“constraint”) in protein-coding genes using the gnomAD database (Genome Aggregation Database). 1/n

biorxiv.org/content/10.110…

Our paper “Investigating the role of cis-eQTLs in modifying the penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders” (NDDs) is out in Scientific Reports! Three interesting findings led to this study: nature.com/articles/s4159…

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 (@swynn_unique).

We are hosting the awesome Gosia Trynka next Monday! If you are around, don’t miss the opportunity to hear about her latest research!

This seems like a GREAT reason to know that the exome is defined by what's spliced, not what's translated.

Can we detect the #RNU4 -2 recurrent variant in exome / panel data ? In a nutshell : YES ! (with some luck) 🧵1/5 Nicky Whiffin Christel Depienne

Firstly, you only find what you look for. This is the most recurrent single mutation in the genome in patients with neurodevelopmental disorders, but has been missed to date because it falls outside protein-coding regions. A good reminder to think outside the ORF. (2/3)

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