I believe we can drive biomedicine forward by giving the right tools to the right people. That idea is what led me to build CRAM2Excel, a new HTSlib/SAMtools plugin that exports CRAM alignments directly into native Excel workbooks. github.com/asazonov/cra...

style(vintage(of(connoisseur(a(have(we(see(i()))))))))

Such a strange annual ritual

Join UK Biobank for a webinar on Nightingale Health metabolomic data from all half a million participants. Our Principal Scientist, @lukejostins.bsky.social, will co-host the webinar. 🗓️ 21 January 2026, 3:00PM - 4:00PM GMT 🔔 Register: events.ringcentral.com/events/webin...

We have a webinar next week with @ukbiobank.bsky.social on the Nightingale metabolomics data. We did a table read today, and it is shaping up really nicely. Please do come! 300 people have registered already and there are only np.inf spaces left! www.ukbiobank.ac.uk/use-our-data...

A lot of Auden, mostly

Our webinar “Multiomic insights into human disease” by @lukejostins.bsky.social is tomorrow! Join us on 3 December at 3 p.m. CET for an exploration of how integrating proteomics and metabolomics can deepen our understanding of human health and disease. Sign up: www.lyyti.fi/reg/webinar-...

🚨 New preprint from the lab! We’re excited to share “Improving population-scale disease prediction through multi-omics integration” by Ng et al. www.medrxiv.org/content/10.1...

"The idea of deporting people with settled status is disgusting, and anyone proposing it should be immediately drummed out of polite society. Breaking promises made in good faith to our friends and neighbours is racist, extremist and immoral." I'm basically shouting at the sky here, but still.

This project is in close collaboration with the amazing @lukejostins.bsky.social, and the student will benefit from a multi-disciplinary team! 🌟🧬🧠

Parquet works really well with R as well. I use it all the time to work with GWAS summary statistics that won't fit into memory (our latest metabolite GWAS tested 95M+ variants in UKBB). Here's a minimal example of how to filter data on the fly while reading into R: gist.github.com/kauralasoo/f...

🎓 New PhD opportunity in our lab @kiroxford.bsky.social @oxforduni.bsky.social We're exploring host–microbiome genetic interactions in IBD using population-scale data 🧬🦠 🔗 kennedy.ox.ac.uk/.../deciphering-host2013microbiome-genetic-interactions-in-inflammatory-bowel-disease #PhD #Genetics

Novartis & Roche collaborated w/ Oxford researchers at the Big Data Institute 2 develop AI model using largest collection of clinical trial data (Novartis-Oxford MS dataset) from >8000 ppl living w/ multiple sclerosis (MS) to reclassify the progression of MS www.ndm.ox.ac.uk/news/using-a... #biosky

Both sides of this debate made me feel very warmly about the people of France. www.theguardian.com/society/2025...

Welcome to our webinar “Multi-omic insights into human disease” by @jeffbarrett.eu on 4 September at 3 p.m. CEST! Join us for an exploration of how integrating proteomics and metabolomics can deepen our understanding of human health and disease. Learn more and sign up: www.lyyti.fi/reg/multiomi...

Amazing news! Excited to be part of this new direction of research.

🚨New preprint just dropped 🚨 medrxiv.org/content/10.1101/2025.06.24.25330216 The main output from my PhD is finally public and we’re SUPER excited about the findings! If you’re interested in what we learnt about IBD with a massive 700+ sample sc-eQTL dataset of the gut, read on!

To see which of these underpin susceptibility, we colocalised these with IBD GWAS. Remarkably, we nominate effector genes at an enormous 74 (❗) loci where one has not previously been nominated in @OpenTargets. This therefore SUBSTANTIALLY improves on previous efforts. 10/

Job alert ‼️ @thomasdwkim.bsky.social and I are recruiting a postdoc in single-cell genomics via the NORPOD program of the @nordicembl.bsky.social. Collaboration between @fimm-uh.bsky.social and @dandrite.bsky.social on multimodal data integration in neurodevelopment. jobs.helsinki.fi/job/Helsinki...

My 7-year-old just made a knife out of Lego, and did this: "I have a knife!" *Does a few slashes, then poses in a fighting stance" "and I am going to a gun fight" Is this from something, or did he make it up himself?

📢 📢Job alert!📢📢 We have an exciting opportunity for a 4 year post-doc in my lab at @crick.ac.uk‬. This project will take a similar approach to our recent ETS2 paper, published in Nature, to better understand the mechanisms that contribute to IBD tinyurl.com/yx43upnk

If you are interested to know why I have been weighing out 15 grams of butter for my bread, and what it has to do with the metabolomics of aging, sign up to this webinar tomorrow

📣 Our webinar “Measuring the effects of aging with metabolomic profiling” by @lukejostins.bsky.social is tomorrow! Remember to sign up and join us tomorrow at 3 p.m. CEST. Sign up: www.lyyti.fi/reg/aging_we...

We have 2-3 group leader positions opening @fimm-uh.bsky.social !! We are looking for outstanding candidates in human genetics and precision medicine. This time we have a focus on population health data science. E.g. AI for EHR/health data        Generous starting package 💰 shorturl.at/FAk6n

NB: The Polygenic Score Catalog has just lost its NIH funding. It was substantial. We are now on auxillary funding sources. If anyone has a spare £1m plz DM

Considering a return to study in the life/environmental sciences at Masters/PhD level after time away? Working and wondering if full/part-time study is the next step for your career? Our RePOWER workshop on 13th June in Oxford/online will provide advice and support. iles.web.ox.ac.uk/repower-retu...

Goodbye #ESHG2025 and goodbye Milano! A great conference and a lovely city.

Justified standing ovation for Nobel laureate Katalin Karikó at #ESHG2025 She shared her adventurous scientific life and life lessons like "If you want to do something, you find a way. If not, you find excuses", and reminded us scientists to thank our near and dear because "they suffer a little bit"

Daniel MacArthur @dgmacarthur.bsky.social, practically twitching with imposter syndrome, is giving the ESHG Award Lecture #eshg2025

Ciao #eshg2025! We had a good time!

Annique Claringbould @anniquec.bsky.social is talking about CRISPR interference in primary CD4 T cells for ~1000 GWAS-implicated enhancers, reading out ~2000 genes. Interfering with some key enhancers (CD28, IL2RA) impact basically every CD4-expressed gene. #eshg2025

From Adam Butterworth: worth getting embroidered:

A very pleasant poster session, lots of friendly people came to talk about our work. I took @jeffbarrett.eu's advice to ask everyone who visited my poster what they work on, to get some actual convos rather than spending an hour repeating my spiel over and over #ESHG2025

More circadian phenotypes from Clara Albiñana. Gold standard for circadian dysfunction requires 24 hour saliva melatonin assay. Can you do it using a cross-sectional blood assay in UKB? #eshg2025

Lea Urpa is giving a talk on the interaction between genetics and circadian rhythm on blood glucose. Satisfyingly relevant top hits: CRY2 (blue light sensor) and MTNR1B (melatonin receptor). Leads to higher glucose in the morning and lower in the evening. #eshg2025

We are #eshg2025! Here's where you can find us.

It is 10.30am in Finland, but nonetheless Helena Kilpinen @hkilpinen.bsky.social has also fallen asleep at the podium. She is talking about looking beyond gene expression to downstream cell phenotypes, such as cell morphology. #ESHG2025

Amazing population-level single cell RNAseq showcases at #eshg2025 -TenK10K (Powell, Australia) and 6.5K donors (Soranzo,UK). lots of interesting findings:cell-type specific eQTLs, disease-associated cell compositions, eGenes enrichment for drug developments, etc. Crucially - they're *open source*!

Nicole Soranzo lives in Milan, but it is still first thing in the morning on a Sunday so she has also fallen asleep at the podium. She is talking about the Cardinal study, single cell RNA-seq 6.5k UK participants with genetics and EHR (UKB and Genes and Health) #ESHG2025

Early morning session on single cell genetics at #ESHG2025. Joseph Powell just flew in from Australia, and may be the first person to fall asleep at the podium.

Aitzkoa Lopez de Lapuente Portilla (called Aitzkoa Lopez de Lapuente Portilla by her friends) has run high resolution flow cytometry in 12k Swedes. Genetics explains more variance in immune cells traits than does age or sex in this study. #eshg2025

Austin Argentieri (@austinargen.bsky.social) has built a proteomic aging score in UKB. They have also built a polygenic risk score for having a younger proteomic than chronological age, and run it in FinnGen - it has an odds ratio of 1.44 for living to 95. #eshg2025

Dalia Kasperaviciute is reporting on the first few thousand of the NHS newborn screening Generation Study. 27 mutations identified (0.5% of cases), of which 19 would be missed by the current blood spots screening program. #eshg2025

Who licks bones found in excavation sites? Archaeologists! To test if it's a bone or a stone. Johannes Krause at #eshg2025 on tackling modern human DNA contamination of samples from archaeological sites.

Steven McCarroll talking about repeat expansion in Huntington's at #ESHG2025. I remember being blown away by Bob Handsaker's talk on this at #ASHG2023. I really hope the next time I see this talked about it ends with plans for inhibition trials in humans.

Finally, some genes are truly pheripheral that have weak indirect effects on many traits. Distinguishing between these scenarios is challenging (unless biology already known), but I believe that varous readouts of cis-effects of variant effects on protein function (including molQTLs) can help.

Eric Abner @genomicsdoge.bsky.social is talking about Tartu's lovely big GWAS meta-analysis of @nightingalehealth.com metabolite data in UKB and Estonian biobank. 600k individuals, 249 metabolites, 8.7k lead variants. About 1000 are low frequency (<0.5%) #eshg2025

Interesting finding from @ambermluckett.bsky.social - the non-HLA GWAS of HLA DR3+ and DR4+ type 1 diabetes are surprisingly different (coheritability is only 0.68). Some evidence of less adaptive (CD4) and more innate (mast cell) enrichment in DR3 genetics. #eshg2025

At #eshg2025. Some nice talks on longitudinal GWAS of childhood traits (in Japan Environment and Children's study) and of hospital lab values (in FinnGen). Nice plots of polygenic prediction of trajectories (eg childhood BMI curves, rises vs fallers for LDL with age).