📣 Paper alert! I am delighted that our paper exploring the impact of Neanderthal-derived variants on the activity of a disease-associated craniofacial enhancer has been published in Development today! journals.biologists.com/dev/article/...

New preprint from another part of my PhD! 📝👇 Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells. By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet. tinyurl.com/mvns2ytv

Interesting new @medrxivpreprint.bsky.social study, bearing on the interpretation of GWAS results: 
“Common and rare genetic variants show network convergence for a majority of human traits” 🧪🧬 www.medrxiv.org/content/10.1...

This package is a game changer for population genetics. You can do pretty much all of the “usual” analyses, in R, and at a super fast speed 😍😍😍 So thanks mainly Evie and Andrea for creating this for all of us!

New online! Making sense of the polygenicity of complex traits

Delighted that the 'flagship' manuscript on our @genesandhealth.bsky.social 44k exomes (British Pakistanis & Bangladeshis) is now preprinted. Great academic-industry collaboration. Lots of new associations (mostly additive, a few recessive) and new insights into homoz knockouts & drug discovery.

Check out the new pre-print from Luci! 👇🏾 Super cool work highlighting the discovery of a blood biomarker of IBD! 👀🧬🔬

It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨‍👩‍👦! www.nature.com/articles/s41...

Our preprint describing and assessing the variant prioritisation approach for genomic newborn screening in the Generation Study @genomicsengland.bsky.social is now on medRxiv www.medrxiv.org/content/10.1...

We did it! We caught Starship #transposons moving between #fungal species in the lab, including between species separated by ~100my. We think Starships are a mediator of HGT in fungi, akin to conjugative elements in bacteria. Check out the preprint. www.biorxiv.org/content/10.1...

Thrilled to share new work led by @jieyang437.bsky.social in the lab published today in @Nature. We find that Aspirin prevents metastasis by releasing T cells from immune suppression by platelet TXA2. @Cambridge_Uni @CRUKCamCentre rdcu.be/eci1U

Comparative analysis of human and mouse ovaries across age https://www.biorxiv.org/content/10.1101/2025.02.27.640481v1

I want to tell you a story about computers, creativity and art. (1/N) 🧵 Sydney Brenner once said in 2012 that “nobody has actually read the human genome. I mean, computers have processed the human genome, but we all know computers are stupid.” (Summary of a talk I gave at the Sanger last week)

Pubmed

Contralateral cancers are an enigma: the unaffected organ is perfectly matched on exposures across life, yet despite this at older ages the risk of cancer in that organ is not much higher than a randomly selected organ from the same population. What can be happening? youtu.be/7rbsGpz9-XE

Really excited to share our next population-scale WGS work preprint. Here, we analyse three anthropometric traits in nearly 700,000 individuals (discovery UKB ~450K, replication AoU). We show, for these traits, that common and rare variant heritability is convergent www.biorxiv.org/content/10.1...

We finally have some well-powered whole-genome heritability estimates, including a quasi-behavioral trait (BMI). For height, ~89% of the heritability estimated to reside in common variants. For BMI and WHR, ~100% estimated in common variants. www.biorxiv.org/content/10.1...

Interesting new paper on links between male infertility and increased cancer risk from Maris Laan: academic.oup.com/hropen/advan...

Excited to finally share that our paper looking at the effect of rare non-coding variants using WGS on circulating protein levels in the UKB has been released in Nature Genetics @naturegenet.bsky.social! We now analyse the full 3,000 circulating proteins in all 50,000 individuals rdcu.be/ea16i

Quantitative genetics is poorly understood by many biologists, and that's surely a failure in how it is taught. But teaching biology as 'fundamentally complex' seems like one of the least promising educational ideas since those 1970s schools that made lessons optional. www.cell.com/cell-systems...

I'm so happy that I can finally share the results of my first postdoc paper with @baym.lol!!! Turns out plasmids are an amazing system to study multi-scale evolution and we can track within-cell and between-cell dynamics! (1/n) www.biorxiv.org/content/earl...

Thrilled to share my 1st PhD's 1st publication at @liigh-unam.bsky.social. Anecdotally it is also my 1st paper as corresponding author from my group / the "Paloegenomics and Evolutionary Biology". shorturl.at/VumOq Let us know what you think about it.

We are excited to announce a new faculty position here in Cambridge, for researchers in computational and/or theoretical biology, based jointly in Genetics and Mathematics. Come and join us! Happy to answer questions about research, teaching and working here. www.jobs.cam.ac.uk/job/50414/

Our lifestyle and environmental exposures are the predominant influencers of healthy aging and premature mortality, compared with polygenic risk, in the first comprehensive assessment www.nature.com/articles/s41... open-access

Our thymus, a critical source and trainer of T cells, involutes with aging. 2 new studies find a growth factor (FGF21) that delays involution (in mouse models) and may be a way to rejuvenate our immune system and promote healthy aging in the future.

🚨NEW PAPER! Together with Wuno Akingbuwa (@wonuola.bsky.social) we developed a way to estimate non-linear genetic correlations. It didnt sit well with us that known non-linear relations (e.g. BMI and MDD with a famous U shaped ) are poorly captured in statistical genetics. 🧵

Many of us scientists in the Global South have been sciencing forever with limited resources, higher costs for infrastructure and reagents/consumables, high bureaucratic burden, no overheads, and still contributed to the generation of knowledge. We’ve developed adaptive strategies.

The human immunoglobulin heavy chain constant gene locus is enriched for large complex structural variants and coding polymorphisms that vary in frequency among human populations https://www.biorxiv.org/content/10.1101/2025.02.12.634878v1

Excited to share a new paper from @insitro.bsky.social (first author @zmccaw.bsky.social ) in @hggadvances.bsky.social vances.bsky.social on scrutinizing the practice of using a ratio trait (numerator / denominator) for GWAS. www.cell.com/hgg-advances...

Happy 1-year anniversary today @bsky.app!

Modern GWAS can identify 1000s of significant hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm very excited to present our new work combining associations and Perturb-seq to build interpretable causal graphs! A 🧵

Welcome immigrants from X interested in science to the friendlier skies of @bsky.app, as documented by a new @nature.com survey (but you already knew that 😉) "Bluesky is much better for science. There is much less toxicity, misinformation, and distractions." www.nature.com/articles/d41...

This is an important shift - the long awaited new Ensembl web site is ready for beta testing - is smooth, scrollable genome loveliness +clean views of the complex information - but @ensembl.bsky.social needs your help to get all the use cases out. Come to the webinar, and check out beta.ensembl.org

There's a genuine scientific mystery here, and it's how people are able to say the exact same things year after year, decade after decade, and have them published as bold new claims. Is this an example of niche construction? www.nature.com/articles/d41...

Landscape of human protein-coding somatic mutations across tissues and individuals https://www.biorxiv.org/content/10.1101/2025.01.07.631808v1

Well isn't this cool??? www.medrxiv.org/content/10.1... Variants in RNU4-2 and RNU6 paralogues could account for up to 1.2% of undiagnosed retinitis pigmentosa cases! Really neat example of pleiotropy: different RNU4-2 variants underlie neurodevelopmental disorder (ReNU syndrome) and RP. 🤓🧬🖥️🩺❤️

The potential importance of reactivation of herpes simplex virus type 1 (HSV-1) as a contributing factor to developing Alzheimer's disease www.science.org/doi/10.1126/...

The gut microbiome signature from different diets in 20,000 individuals. Red meat intake correlated with reduced cardiometabolic health; the opposite for plant-based foods or in omnivores with enriched plant-based intake www.nature.com/articles/s41...

Birth weight discordance, gene expression, and DNA methylation: A review of epigenetic twin studies https://www.biorxiv.org/content/10.1101/2024.11.28.625968v1