Sebastian May-Wilson

A study in Genome Biology presents an integrated resource mapping gene expression across the body, using both single cell and bulk RNA sequencing data and thus providing an invaluable reference for exploring the molecular landscape of human biology. proteinatlas.org/news/2025-07-3…

It's becoming clear that assessing the effects of genetic variants on gene expression within individual cells (sc-eQTLs) instead of bulk tissue is way more efficient🧬 Now, a study in only 48 liver samples detects sc-eQTLs for >3,500 genes — 2/3 of them cell-specific👇

#ESHG2025 it’s a wrap! So glad to have joined and caught stunning human genetics highlights 🧬 @eshgsociety

First time at #eshg2025 and it was an extremely excellent time. Hopefully will see many of your faces again in future. Naturally, I was most impressed by my own work, but what else is new?

Extraordinarily deserved!

The Ganna lab is out in full force at #eshg2025 starting with Zhiyu's talk this morning. If you're interested in the genetic basis of healthcare costs come by my poster tomorrow at 4pm! Or come by when I'm not there to avoid the awkward part where I stare at you the whole time.

I didn't have much hope that we'd find genetic determinants of long-COVID, but after years of work, @VilmaAho, @tomoco_naka, @HugoZeberg and @HannaMOllila made it happen! nature.com/articles/s4158…

🎉 Hi #ESHG2025, the Statistical Genetics Group and alumni (@zkutalik ) is coming in force!
 Check out our latest work on human genetics! 
📍Come see our talks & posters, or reach out to meet us! @CAuwerx @dianazanoaga @SamuelMoix @A_van_der_graaf @CavinatoTheo @dbc_unil

Did you know that some genetic males have plasma proteomes similar to those of genetic females and vice versa? What are the consequences of this? Come discuss with me at our poster number P18.021.D on Monday 26.5. at 4pm-5pm at #ESHG2025

Very excited to give a virtual talk as part of the @eshgsociety webinar series tomorrow at 4pm (CEST). If you want to listen in, register here: wma.eventsair.com/eshg-webinar-s… I will talk about all the exciting things we can learn from GWAS summary statistics...

Finally out!🤩 My first first-author publication is now online. We explored the molecular mechanism underlying the genetic correlation between #BMI and #brain morphology. journals.plos.org/plosgenetics/a… I want to sincerely thank all the co-authors:

Beautiful GWAS study of body mass index (BMI) from deCODE identifying a new risk gene FRS3 associated with BMI with supporting evidence from multiple ancestries. I particularly like the whole genome sequencing (WGS) analysis in the UK Biobank where the authors found a noncoding deletion of 262 kbp deletion downstream of MC4R reducing the BMI more than half a standard deviation--similar effect size as that of heterozygous loss of function variants in MC4R. Deleting a regulatory region downstream of MC4R has the same effect as deleting one copy of MC4R gene. This is the kind of finding I am keenly looking for to emerge from UKB and All of Us WGS data: noncoding variants that disrupt gene function as severely as loss of function coding variants. Note, noncoding deletion not always lead to loss of function, it can also lead to large gain of function as shown by deCODE previously for LDLR (ahajournals.org/doi/10.1161/CI…) where they discovered a 2.5kb deletion of 3' UTR region of LDLR in 7 individuals from a single Icelandic family, strongly reducing LDL cholesterol (related tweet: x.com/doctorveera/st…). There the deletion removed microRNA target sites for LDLR repression, thereby increasing LDLR expression by 1.8 fold. Jonsdottir et al. Nat Gen nature.com/articles/s4146…

UK launches a national health data service agency wellcome.org/news/national-…

23andMe is filing for bankruptcy!! investors.23andme.com/news-releases/…

Our new method HDL-L, high-definition likelihood for local genetic correlation analysis, is now published in @NatureGenet: nature.com/articles/s4158…. The method enables unbiased and fast evaluation of genetic correlations at various genomic segments.

Polygenic risk scores (PRS) are mainly benchmarked for incident disease in population studies🧬📈 If they start being routinely assessed though, we should understand how they perform in diverse clinical settings. This key preprint comprehensively assesses the performance of a diabetes PRS in n=835,241 across 👉ancestries, age groups, and sex 👉cardiometabolic risk factors 👉healthy controls for prediabetes & dysglycemia 👉T2D cases for prognosis & complications

@lassefolkersen I do not... The official DNA Nexus tutorials are woefully inadequate, which is part of why I've been whinging about this. I was genuinely thinking about how plausible it would be to do something like this...

@SebastianMayWi1 Do you know of any? Would be very useful for me for sure

Not so quietly fuming away in a corner about the experience of trying to learn how use the UKB RAP for the first time. I shall be pouting and sulking about this for weeks I tell you. WEEKS.

@lassefolkersen Actually useful YouTube tutorial for UKB RAP you say?

@SebastianMayWi1 Post an easy-to-use guide when you're done please! :-)

Watching a billionaire do a straight up Nazi salute at a Presidential inaugauration was not on my bingo card for 2025. The absolute bending over backwards to try and explain how it wasn't one is also just heckin neato.