Mike Inouye

I regularly get derailed when someone tries to benchmark clustering methods, trying the find the "best" one or the one that agrees with "ground truth".

Which clustering of the below animals is the best or the true one? By row, or by column?

This single story is worth the cost of my year's subscription to
@wired.com

At #ASHG25 and want to meet members of the GWAS Catalog & PGS Catalog teams? Stop by the @impc-phenotypes.bsky.social booth 1420 where we're helping out!

🎉We're pleased to share that @arceastofengland.bsky.social, hosted by @cpft-nhs.bsky.social, has secured £15.3m from @nihr.bsky.social to deliver impactful applied research tackling health & care inequalities and improving outcomes for all over the next 5 years.

🔗 arc-eoe.nihr.ac.uk/news-blogs/n...

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes - Nature Metabolism In clinical and population-based cohorts, a strong contribution of polygenic risk for type 2 diabetes (T2D) significantly modifies the onset and phenotypic variability of maturity-onset diabetes of the young (MODY). This polygenic T2D burden may also account for MODY-like individuals without identified monogenic causes.

RESEARCH | J Murray Leech, KA Patel et al.
@exeter.ac.uk

Polygenic risk for T2D modifies the onset and phenotypic variability of maturity-onset diabetes of the young (MODY) 🧪

OOOPS! UPDATE: Two HHS officials tell me that disease detectives, measles response officers, global health officials and the MMWR staff were laid off by mistake and will be reinstated. But Washington office is still RIFed

🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬

👉 www.nature.com/articles/s41...

1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability

BREAKING: Friday night massacre underway at CDC. Doznes of "disease detectives," high-level scientists, entire Washington staff and editors of the MMWR (Morbidity and Mortality Weekly Report) have all been RIFed and received the following notice:

Totally agree, had an actual LOL when seeing the news

Staff Scientist About EMBL-EBI EMBL’s European Bioinformatics Institute is a data powerhouse, utilised on a global scale to advance scientific discovery through bioinformatics and solutions to some of the world’s mos...

I am hiring! - looking for a Staff Scientist to co-run my research group with me. Staff Scientist is a senior professional scientist role at EMBL. Please forward to people you might know who could be interested! embl.wd103.myworkdayjobs.com/en-US/EMBL/j...

Headline from an article in Nature this week that states "Prizes must recognize machine contributions to discovery. The future of science will be written by humans and machines together. Awards should reflect that reality."

Lol the Nobels can't even acknowledge women's contribution to discovery. But sure let's acknowledge The Machines.

The Relationship Between Genetic Factors and Heart Function - Conceptual Illustration

🚨 Exciting new PhD Opportunity 🚨

Applications are open for 3-year non-clinical PhD studentships with the BHF Cambridge Centre of Research Excellence

📅 Apply by 23 Nov 2025
🌍 Open to UK & international applicants

Find out how to apply here: tinyurl.com/3t59uwbn

Polygenic risk score for type 2 diabetes shows context-dependent effects across populations - Nature Communications Polygenic risk scores can help identify individuals at higher risk of type 2 diabetes. Here, the authors characterise a multi-ancestry score across nearly 900,000 people, showing that its predictive value depends on demographic and clinical context and extends to related traits and complications.

Excited to share our recent work characterizing a type 2 diabetes (T2D) polygenic risk score (PRS) in a collaboration that included 244,637 T2D cases and 637,891 controls, led by @boyaguo.bsky.social! (1/3)

www.nature.com/articles/s41...

Sperm sequencing reveals extensive positive selection in the male germline - Nature A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.

Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...

The rise of ‘nightmare bacteria’: antimicrobial resistance in six charts Data reveal how the global challenge to reduce deaths and infections from drug-resistant bacteria is not going according to plan.

Antimicrobial resistance is projected to cause 39 million deaths worldwide over the next 25 years

go.nature.com/42x5KHD

It is with great sadness that the University shares the news of the death of Professor Sir John Gurdon, founder of the @gurdoninstitute.bsky.social

Read our tribute to the visionary Nobel Laureate and watch an interview from 2012, just after he won: https://bit.ly/4mM8o3r

Nobel Prize in Physiology or Medicine Is Awarded for Work on Immune Systems

I know the news is tough right now.

So take a moment and soak in the gorgeousness & promise of the science that led to this year’s Nobel Prize in Medicine & Physiology.

WOW.

www.nytimes.com/2025/10/06/h...

Are you going to #ASHG2025 next week in Boston? Interested in getting some mentorship from leading figures in the field (and me)?

Check out our speed mentoring event on Thursday! Sign-ups are online so reserve a spot ASAP.

site.pheedloop.com/event/ASHG25...

"the quickest way to get a collaborator to return edits on your manuscript is to write down their affiliation wrong" (ancient academic proverb)

Reading through the headlines these days can be a bit depressing. Having had dozens of students and staff from all over the world, there are indeed oceans of insight within Sofia Vergara's immortal words "Do you even know how smart I am in Spanish?"

I am leaving Rochester NY after attending the retirement fest of four giants in the field of evolutionary biology including my PhD advisor. This visit gave me a chance to revisit old haunts and reflect on my own somewhat unlikely origin story. 1/n

For me, figures 5 and 6 were really exciting.

CAD PRS could both improve early identification of future CVD cases *AND* improve fairness on top of QRISK3. www.medrxiv.org/content/10.1...

Current polygenic risk scores are unlikely to exacerbate unfairness in cardiovascular disease risk prediction Background Current cardiovascular disease (CVD) risk prediction models place many individuals in an intermediate risk category where clinical decision-making remains uncertain, highlighting a critical...

ICYMI 👉 Quantifying the fairness of polygenic risk scores: our modelling and analysis for CVD risk prediction www.medrxiv.org/content/10.1...

Overall PRS fairness levels similar to or better than traditional predictors (age, sex, BP, lipids)

h\t @iamslambert.bsky.social @clairecoffey.bsky.social

Wow, didn't realise it was that bad in the US (nor that the UK was that good) www.bbc.co.uk/news/article...

Inouye Lab - Research Background Technological advances have continued to drive the study of biology towards the statistical and computational sciences. We are now able to differentiate and quantify biomolecules at levels ...

Not unrelated... I've recently updated the Research page on our lab's website (first time in nearly 10 years!) www.inouyelab.org/home/research

and we are now recruiting PhD students for autumn 2026 @dphpc.bsky.social @cam.ac.uk - feel free to get in touch!

Now published @nataging.nature.com: A rare sole author paper on "Refining the generation, interpretation and application of multi-organ, multi-omics biological aging clocks" www.nature.com/articles/s43...

Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities www.nature.com/articles/s41...

Cool findings: Two obesity GRSs for stratification, one with cardiometabolic comorbidities (GRS_BFP) and one without (GRS_uncoupling)

Inouye Lab - Research Background Technological advances have continued to drive the study of biology towards the statistical and computational sciences. We are now able to differentiate and quantify biomolecules at levels ...

Not unrelated... I've recently updated the Research page on our lab's website (first time in nearly 10 years!) www.inouyelab.org/home/research

and we are now recruiting PhD students for autumn 2026 @dphpc.bsky.social @cam.ac.uk - feel free to get in touch!

It is now clear that more people are being diagnosed as autistic in their teens and as adults than in childhood. A prevailing theory is that those diagnosed later have "milder" form of autism, and later diagnosis entirely due to social factors.

Polygenic and developmental profiles of autism differ by age at diagnosis - Nature A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

Pleased to have contributed to this paper out at @nature.com today from @vw1234.bsky.social and Yira (Xinhe) Zhang showing that the common variant contribution to autism varies substantially by age of diagnosis www.nature.com/articles/s41.... Critical for understanding heterogeneity in autism.