Sarah Waldvogel (BCM MD/PhD Program) thoroughly reviewed the literature to understand the consequences for disease. (view version: rdcu.be/dEtHs)

nature.com/articles/s4157…

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…

There's still a week left to register for the Mutations in Time and Space conference.

Join us 23-25 April in beautiful Edinburgh, UK.
mutationmeeting.com

We've a stellar lineup of speakers and even a traditional Scottish cèilidh after the gala dinner!

And to start 2024 (HNY everyone!).. most happy to see our work on #telomere fusions and the #ALT pathway out in Nature Communications! The last one by super postdoc fmuyas - well done! Open Access version (thanks EMBL) here: nature.com/articles/s4146…

New preprint from our lab 👇🏽

Want to add spatial coordinates to your single cell data?

Check out Slide-tags, out today in nature!

nature.com/articles/s4158…

Postdoctoral fellow job with Vahedi lab Philadelphia, Pennsylvania (US) nature.com/naturecareers/… #jobs

Gene therapy is big news! bbc.in/478lz7X
and a major advance for patients with sickle cell disease (SCD) & thalassemia.

But in some recent trials, a small number of patients developed blood cancer. Our study (out in Nature Medicine ) asked why...
nature.com/articles/s4159…

For anyone at #ASHG2023 check out our recent work led by superstar student Hamish MacGregor on modelling the deceleration of clonal haem in #UKBB . Cancer poster session III Saturday AM. Evidence of age-related slow down in HSC dynamics.

Isaac Garcias has a poster today (PB1475) on common genetic factors modifying the germline de novo mutation rate, and I have one (PB1598) on influence of autozygosity on complex diseases (work by Daniel Malawsky ), led jointly with Raheleh Rahbari and Aylwyn Scally

Team Rahbari at #ASHG2023 🧬

Can find me presenting a poster on my PhD work examining positive selection in sperm from 2:15-4:15pm on Saturday at PB3114!

Very pleased to say that our work on autozygosity and complex disease in @EastLondonGenes UK Biobank and 23andMe Research & Therapeutics (led by Daniel Malawsky) is now published in Cell Cell doi.org/10.1016/j.cell…. See Danny's thread with the main findings below.

✂️Splice splice baby!✂️

New paper just out in Cell Stem Cell integrating Oxford Nanopore long read single-cell isoform mapping into our broader genotype-phenotype vision for clonal mosaicism !
authors.elsevier.com/a/1hat96tu0Cm5…

Thrilled to have contributed to this beautiful study on DNA repair and #chromothripsis !

Excellent opportunity to join a pioneering and friendly team working to detect cancer earlier Early Cancer Institute, University of Cambridge Cambridge University

A new study uses #genomics to track #cholera strains in a refugee camp during a mass vaccination 💉 campaign.

The research shows that disease surveillance can help public #health officials make informed decisions and protect vulnerable people.

sanger.ac.uk/news_item/new-… #genomics

Can you imagine science without collaboration? Neither can we…😌

CERN as a large-scale scientific collaboration is a testament to cooperation across continents.

In this #CERNSparks talk, Wellcome Sanger Institute's Muzlifah Haniffa details global scientific collaborations.…

We’re excited to share our preprint on spatial organization in glioblastoma: doi.org/10.1101/2023.0…. We combine spatial transcriptomics (Visium) and proteomics (CODEX) to reveal a five-layer organization of cellular states and highlight a role of hypoxia as tissue organizer. 1/

Very excited to see our study presenting SComatic out in Nature Biotechnology! Huge congrats to fmuyas and all co-authors!
paper: nature.com/articles/s4158…
briefing: nature.com/articles/s4158…
news: ebi.ac.uk/about/news/res… thread👇

June really appears to be my lucky month - our new preprint is out on Research Square! 😍 Together with Mike Spencer Chapman, @andrewrjlawson and many others we looked into the life history of mitochondria in the human haematopoietic system researchsquare.com/article/rs-308…. [1/x]