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

We're looking forward to this year's Dr Stanley Ho Memorial Lecture on 29/4 by Caroline Wright

'Revisiting genetic determinism: evidence from large population cohorts', in collaboration with Oxford Martin School

1/ We’re excited to share our new preprint “Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions” available on medRxiv! medrxiv.org/content/10.110…

A link to the recommendations for clinical interpretation of variants found in non-coding regions of the genome is displayed in the sequence variant pathogenicity interface when a variant in a non-coding region is being evaluated Jamie Ellingford Nicky Whiffin #noncoding

Applications open for a 4-year PhD w/ Fight for Sight

👁️Detect variants impacting gene expression in human eye

🧬Work with large human genomic datasets, including Genomics England 100,000 genomes project

✍️Spend some time w/ Nicky Whiffin in Oxford

surl.li/rhidq