I totally have to read this!! Very relatable as 3 of the 4 fit with my own experience - aphantasia (no mental imagery, or indeed sounds, or smells etc.), face blindness, and severely deficient autobiographical memory (SDAM) Brains are fascinating! Sometimes I wonder how mine functions at all...
Here's a New Haven Independent story on my talk with Sadie Dingfelder last night about aphantasia, face-blindness, and other fascinating varieties of the human mind. ๐งช www.newhavenindependent.org/article/do_i...
Do you have a mind's eye, the ability to not just remember, but visualize the past? Do you have an interior monologue? Rich childhood memories, full ofโฆ
The key problem with replying to emails is that people then reply to your emails ๐
Super excited to have this out! ๐ฅณ We identify RNU4-2 as a new neurodevelopmental disorder (NDD) gene. We estimate that variants in an 18 bp region of this non-coding RNA explain ~0.4% of all individuals with NDD ๐ฎ Led by a super talented DPhil student Yuyang Chen ๐ ๐งฌ๐ฅ๏ธ
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders https://www.medrxiv.org/content/10.1101/2024.04.07.24305438v1
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehen
Some updated guidance on our gnomAD v4 constraint scores: gnomad.broadinstitute.org/news/2024-03...@gnomad-project.bsky.social team is hard at work on v4.1 and improvements across the board, so expect more updates. Thanks to Katherine Chao for spearheading this blogpost.
We know the importance of subtle gene dosage variation; yet much of molbio is based on gene KO/KD. In our new preprint, our (ex-) postdoc Julia Domingo introduced subtle modulations of transcription factor dosage by CRISPRi/a, and quantified responses by scRNA-seq. 1/ www.biorxiv.org/content/10.1...
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
Currently trying to decide whether Chrome crashing and refusing to restore my >150 tabs is a complete disaster or absolutely amazing... ๐ค๐ฑ
Our review article, with Ira Deveson, @hdashnow.bsky.social@dgmacarthur.bsky.social, on sequencing & characterising short tandem repeats is out in @NatRevGen! We delve into short read & long read STR genotyping tools and applications in rare disease & population genetics ๐งฌgo.nature.com/48pWZix
Yesterday I had the immense pleasure of being on the examination committee at a public thesis defense. I came away feeling sad that we don't do these in the UK - we don't publicly celebrate the immense amount of work that goes into a PhD with everything instead happening behind closed doors ๐
Sunday afternoon spent reviewing ESHG abstracts ๐งฌ๐ค while on my favourite form of transport, the Eurostar ๐. Brussels and Ghent here I come!
Musing on the ideal length of a cycle commute... long enough for some deep thinking time but not too long that you spend 75% of it itching for access to the internet to research your new idea ๐ดโโ๏ธ Picture of beautiful sunset on cycle home last week โค๏ธ
