Calling all rare disease researchers and clinicians who have a variant of uncertain significance... 🧬

The MRC National Mouse Genetics Network & MRC NMGN Congenital Anomalies (co-led by our PI Steve Twigg) are currently looking for VUSs to model in mice! 🐭

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And it’s #PhDone ! Rachel Kimber, first PhD student in my lab Babraham Institute, has brilliantly defended her thesis today. Thanks to Carola Vinuesa and Brian Ferguson for examining Rachael’s thesis. Well done, Dr. Kimber 🥳 🎉🥂

Fantastic day talking science BigDataInstitute. Thanks for the invitation to share our research Rob Beagrie - it was great to see some familiar faces (the lovely Yang Shi!), put some faces to names/emails, and meet some new!

If you are willing to learn low input techniques to explore the chromatin of your favourite organism, don't hesitate to apply to this hands-on course! We'll be teaching you Low-C, ATAC-seq, CUT&RUN, and its bioinformatic pipelines.

Applications are now OPEN for an internship in my group at Oxford University. Open to UK undergraduates from under-represented and disadvantaged backgrounds – apply by Wednesday 21 February 2024 to join us this summer: ox.ac.uk/admissions/gra…

Very excited to share that our work reconstructing chromothripsis has now been published in Cell Genomics! We reconstructed chromosomes with up to 800 rearrangements on a single allele and queried epigenetic and transcriptomic consequences. Thread below!

cell.com/cell-genomics/…

Submissions for technology track presentations are also open - go to iscb.org/ismb2024/submi… and apply by May 10th to showcase your bioinformatics/molecular biology software or hardware to the community #Bioinformatics #ComputationalBiology #ISMB2024

You can now submit your new, unpublished work for publication as a proceedings paper at ISMB 2024! Full details are available at iscb.org/ismb2024/submi… - the deadline is January 25th #Bioinformatics #ComputationalBiology #ISMB2024

Applications are now open for a fully funded South Coast Biosciences DTP PhD project with myself (@sotonbiosci ) and Jerome Swinny (@portsmouthuni) … please get in touch to discuss the project! Deadline Jan 8th.

Is anyone here using the UKBiobank 200k genomes dataset? We are having some weird issues and are trying to troubleshoot if data vs code 😬 Anyone else seeing anything odd?

Either way, please share! 🧬

How cis-regulatory elements interact to regulate gene expression-role of CTCF and cohesin- check out our pre-prints MRC WIMM Jim R. Hughes Hughes Group Rob Beagrie Jef Boeke Molecular Cell Nucleic Acids Res CTCF Papers 📚 Gene Regulation

biorxiv.org/content/10.110…

biorxiv.org/content/10.110…

Congrats Prof Ana Pombo PomboLab !!

Multiplex GAM is out! Congrats PomboLab Prof Ana Pombo !!

Coming to a brain near you!!

nature.com/articles/s4159…

Multiplex-genome architecture mapping (multiplex-GAM) facilitates rapid, unbiased and ligation-free determination of chromatin interactions, as compared to Hi-C.

Prof Ana Pombo Rob Beagrie Scialdone Lab Lonnie R Welch PomboLab @[email protected]

nature.com/articles/s4159…

The paper about CIARA - our method to find rare cells in scRNAseq data - is now published in Development!
One of the major additions to the preprint is the analysis of scATAC-seq datasets, showing how CIARA can find rare cells in other types of single-cell omic datasets too.

So I’m now really excited about the potential of tardigrade genes to hold a key to therapeutics for DNA breakage repair deficiencies Chris Mason Cindy Taylor Lawley #ESHG2023

I'm looking forward to presenting at #ESHG2023 in the C21 Late Breaking session on Monday at 10:30am. I'll be discussing structural elements that shape 3D chromosome topology at a human disease locus. Also excited to visit Glasgow and hear the latest in human genetics research!