In their recent @ajhgnews.bsky.social Review, @vkarhune.bsky.social, @stevesphd.bsky.social, & co discuss the key considerations and provide advice to produce a higher standard in planning, conducting, reviewing, and interpreting cis-Mendelian randomization studies: https://bit.ly/48DEz0H #ASHG

Our review "Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization" is now published at @ajhgnews.bsky.social - led by @vkarhune.bsky.social and Benji Woolf with critical insight from Dipender Gill and Pallav Bhatnagar. Thread follows:

Thanks, Kaur!

Great to see this out! It was a pleasure to be one of the reviewers. @vkarhune.bsky.social @stevesphd.bsky.social

📣New Review!
📄Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization
🧑‍🤝‍🧑 @vkarhune.bsky.social @stevesphd.bsky.social & co
👉 bit.ly/4tKkY7r

How and when to use causal and associational language Deciding which concepts should be described in causal language and which should not Research questions fall into one of three categories: descriptive, predictive, or causal.1 The past decade has seen...

Fantastic paper by @jeremylabrecque.bsky.social and Katrina Kezios on 'How and when to use causal and associational language'.

Nicely explains why I get so frustrated by studies that claim that their aim is to estimate "the association"!

www.bmj.com/content/392/...

Variant selection to maximize variance explained in cis-Mendelian randomization - PubMed Optimal selection of instrumental variables (IVs) from a single gene region in cis-Mendelian randomization is challenging as variants are highly correlated due to linkage disequilibrium (LD). Using only the lead variant is convenient but may not achieve full statistical power if multiple signals exi …

New paper "Variant selection to maximize variance explained in cis-Mendelian randomization" led by @AngZhou3 and published at @HGGAdvances: pubmed.ncbi.nlm.nih.gov/41548043/, with contribution from @vkarhune.bsky.social, Haodong, Janne, Ash, and Eric. Brief thread:

Figure 1: The Rothman-Dahly Evidence Pyramid (original version) An equilateral triangle with a small blue section labelled "Thoughtful, well-conducted studies of any design" at the top, with the remaining space colored red and labelled "The other shit"

‪It has a name now 😜

Many thanks to Ken for agreeing to put his good name to my...artwork. The image is in the public domain (CC 0), but citations to the linked documents are warmly welcomed.

✅ zenodo.org/records/1808...

✅ pubmed.ncbi.nlm.nih.gov/24452418/

Alcohol consumption and risk of cancer: a Mendelian randomization analysis of four biobanks and consortium data - BMC Medicine Background Alcohol consumption has been linked to cancer risk. Evidence is strongest for seven cancer types: breast, colorectum, oesophagus, liver, mouth, pharynx, and larynx. However, evidence suppor...

New paper: "Alcohol consumption and risk of cancer: a Mendelian randomization analysis of four biobanks and consortium data" out at BMC Medicine: link.springer.com/article/10.1.... Lots of interesting findings! Brief thread:

Design and interpretation of eQTL-GWAS colocalisation studies: lessons from a large-scale evaluation www.medrxiv.org/content/10.1101/2025.11....

Systematic comparison of colocalization methods using protein quantitative trait loci Colocalization is frequently performed as a step to triage findings from genetic investigations linking molecular and disease data. However, the reliability and consistency of the various colocalizati...

New pre-print: "Systematic comparison of colocalization methods using protein quantitative trait loci" led by @hwang_seongwon at www.biorxiv.org/content/10.1.... Which method does best? Find out!

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:

Mendelian randomization in a multi-ancestry world: reflections and practical advice Many Mendelian randomization (MR) papers have been conducted only in people of European ancestry, limiting transportability of results to the global population. Expanding MR to diverse ancestry groups...

New pre-print "Mendelian randomization in a multi-ancestry world: reflections and practical advice" led by @amymariemason.bsky.social on - arxiv.org/abs/2510.17554

📣Preprint alert - a tricky one, as there are no significant results (and we all know null-results are hard to publish)
Do PCSK9 levels affect survival in breast cancer patients?
We tried to replicate findings in cell lines and mouse model using 3 Mendelian Randomization approaches, but failed.

Developing risk prediction models for type 2 diabetes and assessing the role of circulating metabolic biomarkers in five independent Finnish cohorts with over 22000 individuals Type 2 diabetes is a serious public health risk. It is not well known whether large scale omics data could help improve the risk prediction. We combined the use of metabolic variables with modern mode...

Developing risk prediction models for type 2 diabetes and assessing the role of circulating metabolic biomarkers in five independent Finnish cohorts with over 22000 individuals - Journal of Clinical Epidemiology www.jclinepi.com/article/S089...

In modern datasets, very large sample sizes combined with slight differences in information across SNPs (eg die to imputation) can mislead fine mapping algorithms, and in turn colocalisation.

Flexible and efficient count-distribution and mixed-model methods for eQTL mapping with quasar Identifying genetic variants that affect gene expression, expression quantitative trait loci (eQTLs), is a major focus of modern genomics. Today, various methods exist for eQTL mapping, each using dif...

Very excited to share new work from my PhD on a new software package for eQTL mapping: quasar. The quasar software package is a C++ program designed to provide a flexible and efficient eQTL mapping. www.medrxiv.org/content/10.1...

Booking is now open for the MRC #Biostatistics Unit's 22nd Armitage Day!

Keynote from Matthew Stephens: “The menagerie of matrix factorization methods”

Plus talks by @manuelazucknick.bsky.social, Gibran Hemani and (as yet unnamed!) BSU researchers.

onlinesales.admin.cam.ac.uk/conferences-...

Published: the paper 'On the uses and abuses of Regression Models: a Call for Reform of Statistical Practice and Teaching' by John Carlin and Margarita Moreno-Betancur in the latest issue of Statistics in Medicine onlinelibrary.wiley.com/doi/10.1002/... (1/8)

Looking for your next research position? We're recruiting two genetic epidemiologists to work on two projects at the Division of Psychiatry at UCL, part of the growing UCL Human Genomics group.

Variant-specific priors clarify colocalisation analysis Author summary Evaluating whether two traits, such as disease risk and gene expression, are affected by the same genetic variants is crucial for understanding the molecular mechanisms through which ge...

Very happy that my first PhD paper is now out in PLOS Genetics! journals.plos.org/plosgenetics.... We describe our implementation of variant-specific priors in coloc. We show that using distance to the TSS as information about which variants are causal can improve colocalisation performance, 1/n

The role of estimation in Mendelian randomization: should Mendelian randomization investigations provide estimates?

New paper published at AJE Advances: "The role of estimation in Mendelian randomization: should Mendelian randomization investigations provide estimates?" led by @BarWoolf and myself: academic.oup.com/ajeadvances/.... Brief thread:

Human genetics suggests differing causal pathways from HMGCR inhibition to coronary artery disease and type 2 diabetes Background: Statins lower low-density lipoprotein cholesterol (LDL-C) and reduce the risk of coronary artery disease (CAD). However, they also increase the risk of type 2 diabetes (T2D). Methods: We c...

New pre-print led by @hwang_seongwon: "Human genetics suggests differing causal pathways from HMGCR inhibition to coronary artery disease and type 2 diabetes": www.medrxiv.org/content/10.1.... Brief thread follows:

Illustrating the structures of bias from immortal time using directed acyclic graphs AbstractBackground. Immortal time is a period of follow-up during which death or the study outcome cannot occur by design. Bias from immortal time has been

Our work on immortal time bias "Illustrating the structures of bias from immortal time using directed acyclic graphs" led by Emma Guoyi Yang @yanggy_hku is out at International Journal of Epidemiology: doi.org/10.1093/ije/.... Brief thread:

IGES: the International Genetic Epidemiology Society

Dear early career genetic epidemiologists:

The IGES Young Investigator Committee is looking for new members! It's a fun group, low time commitment, and great way to network with peers while supporting trainees around the world.

Apply here by Dec 31st:
www.geneticepi.org/yic_position...

Photo of BSU PhD students - some standing and some kneeling, all smiling and looking at camera, with building in background.

Become a #PhDStudent at our Unit.

An exciting place to start a career in biostatistics research.

Find out more about the great projects we have to offer starting in Oct 2025 & apply 👇
www.mrc-bsu.cam.ac.uk/phd-opportun...

@cambridgeuni.bsky.social

Interested in Mendelian randomization or GWAS?

I thought it could be nice to connect the MR and GWAS community so here is a Starter Pack I'm building! 🧬

#academicsky #genomics #genetics #MR

Let me know if you would like to be added or know someone to add. Enjoy and share! go.bsky.app/R19GhDP