Our preprint on the role of the nuclear pore protein TPR in cytoplasmic chromatin formation in senescence is out! This is most of the work from my PhD, so seeing it out in the world is a proud moment for me. biorxiv.org/content/10.110… Here’s a brief summary of our key results:

Very happy we are now able to share this, and thanks to everyone who contributed! We hope that this will be useful for developers and users of variant effect predictors. See also our big list of VEPs at varianteffect.org/veps

An inspirational event that brought together a diverse set of voices to discuss the challenges, progress and opportunities associated with rare disease.

Director of MRC_HGU Wendy Bickmore opens the session on research developments in rare diseases at Genetic Alliance UK’s Scotland Rare Disease Day Reception at the Institute today. #RareDiseaseDay 2024 #RareDiseaseDay

The full line-up of speakers for the Mutations in Time and Space conference is now available.

You can still register- head over to mutationmeeting.com before 21st of March.

I've just signed the petition opposing plans to build a destructive luxury golf course at beautiful rugged #CoulLinks in the #ScottishHighlands . Will you sign too? #BeautifulScotland you.38degrees.org.uk/petitions/save… via 38 Degrees

Exciting demonstration of the value of deep WGS, and calling of structural variants, for effective patient stratification

🥛📈 New and disruptive scientific knowledge is fostered by being under one roof, sharing the same coffee room.
nature.com/articles/s4158…

We are hiring! Please RT
We are recruiting a new Bioinformatics Core Manager for the Institute of Genetics and Cancer, University of Edinburgh:
ed.ac.uk/medicine-vet-m…
The next step in your bioinformatics career!
Apply before 17th January 2024:
elxw.fa.em3.oraclecloud.com/hcmUI/Candidat…

Please R/T! Colin's the best boss and the Institute of Genetics and Cancer Bioinformatics Core is a fantastic team. I have loved my time in this post. Contact me if you want a chat to find out all the fun stuff the new manager will get to do.

Take a first step to your career in Genetics, Genomics and Disease by applying to our 4 year PhD programme. UK and International applicants welcome. Deadline 17/1/2024 ed.ac.uk/mrc-human-gene…

Variant to function: are footprints and eRNAs the best pointer to functional non-coding genetic variants? MRC_HGU Institute of Genetics and Cancer Simon Biddie Elias Friman Giovanna Weykopf biorxiv.org/content/10.110…

Acetylation of H3K115 at the nucleosome dyad is associated with fragile nucleosomes at active regulatory sites. Lovely work from Yatendra Kumar Dipta Sengupta Robert Illingworth Elias Friman MRC_HGU Institute of Genetics and Cancer
biorxiv.org/content/10.110…

Looking forward to being there

Application for our next cohort of cross-disciplinary fellows is now open- please share this great fellowship opportunity MRC Recruitment MRC-Uni of Glasgow Centre for Virus Research School of Informatics, The University of Edinburgh Physics Astro @ Edin UoM Physics & Astronomy @AnonSciCar UCL Medical Physics & Biomedical Engineering Institute of Physics Edinburgh Uni Maths Edinburgh Medical School

Exciting new MRC/NIHR Rare Disease Network for Renal Ciliopathies to improve the identification, diagnosis and management of patients with renal ciliopathies, and to inform new therapies.MRC_HGU Institute of Genetics and Cancer The Mill Lab
ed.ac.uk/mrc-human-gene…

New paper:

Genome-wide single-molecule analysis of long-read DNA methylation reveals heterogeneous patterns at heterochromatin that reflect nucleosome organisation MRC_HGU Edinburgh Cancer Research Institute of Genetics and Cancer Biological Sciences | University of Edinburgh Lyndsay Kerr Ioannis Kafetzopoulos Ramon Grima Duncan Sproul

doi.org/10.1371/journa…

Great to see Elias Friman paper on ultra-long range interactions out in final format Genome Research MRC_HGU Institute of Genetics and Cancer