How do GWAS and rare variant burden tests rank gene signals? In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck! 🧬🧪🧵 www.nature.com/articles/s41...

Specificity, length and luck drive gene rankings in association studies - Nature

Genetic association tests prioritize candidate genes based on different criteria.

nature.com

Excited to share our latest work on the factors that determine what genes we find (and don't find!) in GWAS and burden tests. We describe a critical concept that we call *specificity*. Led by Jeff Spence and Hakhamanesh Mostafavi:

Jeff Spence@jeffspence.github.io · 9mo ago

How do GWAS and rare variant burden tests rank gene signals? In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck! 🧬🧪🧵 www.nature.com/articles/s41...

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.

🧬💥 Do the genetics that make you develop a disease also help you survive it? Not much. Our new study in Nature Genetics including 9 disease and 7 biobanks shows: • Susceptibility variants ≠ survival • PRSs for onset weak at predicting progression • Lifespan PRS predicts survival better

We are delighted to announce the launch of a new Master's Programme in Brain Health and Disease within the Department of Clinical Neurosciences at the University of Cambridge. Applications are now open! @camneurodept.bsky.social www.clinical-neuroscience.cam.ac.uk/education/ta...

We have an opening for a research assistant/associate to study the genetics of neurodevelopmental traits in the general population, and explore their overlap with neurodevelopmental diagnoses. Funds available until Jan 2027. lnkd.in/eHEcccwC Please circulate widely.

We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. www.biorxiv.org/content/10.1... (1/n)

Armin Raznahan@bogglerapture.bsky.social · 12mo ago

rdcu.be/eB3dW

Very nice method that exploits collider bias to identify independent contributors to outcomes.

John Belmont@jwbelmon.bsky.social · 12mo ago

Causal Pivot is an idea that comes from differential diagnosis in medical practice www.sciencedirect.com/science/arti... Chad Shaw and I drew DAGs for molecular diagnosis and gene discovery. He saw an opportunity to exploit collider bias in an interesting way.

Latest processing of UK Biobank brain imaging data - now with 82,000 usable first-scan datasets. Correlating brain IDPs with 13,000 non-imaging variables gives a rich manhattan-stye plot. 324,000 Bonferroni-significant associations.

Isn't genetics cool??? Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months) 🤯🤓🧬❤️

@alexblakes.bsky.social · 12mo ago

Importantly, most of the mutations potentially responsible for this condition fall outside of the #ReNU syndrome critical region – they cluster in other parts of the U4 structure which make contacts with other RNAs and proteins, or within U4 itself.

Excited to share this preprint from first author Jon Rosen, a postdoctoral fellow in the @klmohlke.bsky.social lab and my lab. We examine eQTL study sample size and how this affects signal discovery and rates of colocalization with GWAS. www.biorxiv.org/content/10.1...

Higher eQTL power reveals signals that boost GWAS colocalization

Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability...

biorxiv.org

Interested in Network hubs, cortical hierarchies, and gradients? Ever wonder where they come from? Check our latest review, where we cover different approaches to mapping hubs, models for their evolution, and mechanisms for how they develop: osf.io/preprints/os...

ECR Workshop: Proteomics & Mental Health 🧠 9 Oct | Edinburgh | £25 Hosted by @mqmentalhealth.bsky.social & @datamind.bsky.social in partnership with MHP. Meet the Speakers! Programme & bios online – register: rebrand.ly/ecr-workshop

Science doesn’t need to be pretty and go according to plan; it just needs to lead to a discovery. If doesn’t have to be done alone or together with someone else; there just needs to be a discovery. It doesn’t need to happen fast or slow; just as long as there’s a discovery, then everybody is happy.

Our new paper is out today! 🎉 In it, we use administrative register data to document how psychiatric disorders are strongly linked to parental income, from childhood far into adulthood. Furthermore, we attempt to separate causation and selection using kinship-based models. doi.org/10.1111/jcpp...

Psychiatric Genetics Beyond Heritability: Q&A with Michel Nivard ( @michelnivard.bsky.social ) “We look for genes as a means to an end—biology, epidemiology, and etiology of complex human outcomes.” www.psychiatrymargins.com/p/psychiatri...

Psychiatric Genetics Beyond Heritability: Q&A with Michel Nivard

We look for genes as a means to an end—biology, epidemiology, and etiology of complex human outcomes.

psychiatrymargins.com

🚨New preprint is out! How do genetic effects on complex traits change with age? In this work, we compare different approaches to obtain age-varying genetic effects, and show how design and modeling choices can impact the conclusions we draw. shorturl.at/17snd A thread 🧵👇

Design and model choices shape inference of age-varying genetic effects on complex traits

Understanding how genetic influences on complex traits change with age is a fundamental question in genetic epidemiology. Both cross-sectional (between-subject) and longitudinal (within-subject) appro...

shorturl.at

New pre-print! ✨ Antecedents and outcomes of a late ADHD diagnosis in females: www.medrxiv.org/content/10.1... TLDR: This study finds evidence that a delay in ADHD diagnosis has profound and clear consequences by adolescence and this disproportionately disadvantages females (people who are AFAB).

Antecedents and outcomes of a late attention deficit hyperactivity disorder (ADHD) diagnosis in females

Females receive an attention deficit hyperactivity disorder (ADHD) diagnosis at an older age than males. We examined the antecedents and outcomes of later (age 12+) diagnosis in females using data fro...

medrxiv.org

New preprint!🚨 "“The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence” is out on medRxiv. www.medrxiv.org/content/10.1... Thread 👇

The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence

Genetic factors influence vulnerability to common mental health conditions, but their role in early-life mental health remains understudied. We analysed genotype array and exome sequence data from two...

medrxiv.org

Studying the genetics of intelligence measures can help us understand the neurobiology of cognition and neurodevelopmental conditions 🧬🧠 We estimated missing intelligence test scores in @ukbiobank.bsky.social to reduce bias and boost power. Preprint: www.medrxiv.org/content/10.1... Thread 👇

I am proud to have led and contributes to the experts in evidence advisory group- alot of hard work went into this www.england.nhs.uk/2025/06/nhs-...

NHS England » NHS England responds to ADHD Taskforce interim report

An independent taskforce set up to tackle challenges in attention deficit hyperactivity disorder (ADHD) care has published its interim report and recommendations today (Friday 20 June 2025). The repor...

england.nhs.uk

📢 Just posted: Our preprint introducing SPC — Spectral Components — is now live on medRxiv! Led by Dr. Ruhollah Shemirani and years in the making, this method offers a robust, scalable way to adjust for recent population structure in genomic analyses. 🔗 www.medrxiv.org/content/10.1... 1/9

SPC: a SPectral Component approach to address recent population structure in genomic analysis

Population structure is a well-known confounder in statistical genetics, particularly in genome-wide association studies (GWAS), where it can lead to inflated test statistics and spurious associations...

medrxiv.org

New preprint out! We mapped brain vulnerability in Alzheimer’s using MIND networks + population modelling. Put this together with a brilliant team @raibethlehem.bsky.social @sarahmorganuk.bsky.social and many more still making their way to Bluesky 🧠 doi.org/10.1101/2025.06.10.25328978

Richard@raibethlehem.bsky.social · last yr.

Another great team effort, spearheaded and driven by @mmontagnese.bsky.social doi.org/10.1101/2025...

Excited about our new preprint: 1st successful genome-wide study of >61,000 panic attack and 29,000 panic disorder cases. www.medrxiv.org/content/10.1... We find 17 associations & evidence that peripheral neurons in eye, lungs and heart are involved in panic & other psychiatric disorders 1/n

🧵 THREAD: Preprint from @chrisrayner.bsky.social reveals how to fix selection bias in the Norwegian #MoBa study using population-wide registry data! For the first time, we can quantify and adjust for selection bias in this major epidemiological resource. Spread the good news! osf.io/preprints/os...

1/13 New preprint out! We developed methods to test a key assumption in family-based genetic studies: that siblings don’t genetically influence each other’s traits. Spoiler: mostly they don’t, but there’s a twist with ADHD ratings at age 3 👶 osf.io/preprints/ps...

📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores www.nature.com/articles/s41... Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.

(1/9) 📣 OUT NOW! 📣 So excited to share that our systematic review and meta-analysis on the autism polygenic score is now published in JAACAP Open @jaacapjournals.bsky.social. doi.org/10.1016/j.ja... A (long) thread of our main findings ⤵️

Extremely excited to share the first effort of the Revived Genomics of Personality Consortium: A highly-powered, comprehensive GWAS of the Big Five personality traits in 1.14 million participants from 46 cohorts. www.biorxiv.org/content/10.1...