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Thibaud Boutin 🧬💻 🧀

@tsboutin.bsky.social
102 followers 407 following 0 posts

Statistical Geneticist NIHR BioResource - University of Cambridge Views are my own

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Reposted by Thibaud Boutin 🧬💻 🧀
Philip Ball @philipcball.bsky.social · 11/09/2026
I am rather delighted by this paper. So here’s a thread to tell you why, and why it matters. /1 www.science.org/doi/10.1126/...
science.org
Noncoding transcription controls the developmental dynamics of long-range gene regulation
The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely unknown. By using live imaging, we reveal that the ...
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Frank Harrell @f2harrell.bsky.social · 23/08/2026
The gold standard for producing PDF documents (especially books and journal articles) has been LaTeX. @typst.app re-engineered the entire process in an incredibly elegant extensible way. On my MacOS LaTeX (TexLive) takes 9.1GB of disk space. Typst takes 43MB. Not a misprint.
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Mike Inouye @mikeinouye.bsky.social · 07/08/2026
Latest from our lab! A proteome-wide association study of cardiovascular diseases in 640,000 participants of multiple ancestries www.medrxiv.org/content/10.6... A truly global collaboration of computational and experimental researchers. h\t @yuxu.bsky.social, Doug Loesch, Henry Taylor among many!
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Alex Diaz-Papkovich @alexandr.bsky.social · 05/08/2026
How does human genetics research live in the information ecosystem? Is it misused? Misrepresented? In my paper with @sramach.bsky.social, we tackle this question with 25 years of Wikipedia data, AI chatbot responses, and pages from Grokipedia www.biorxiv.org/content/10.6...
biorxiv.org
From Wikipedia to AI: Measuring 25 years of synthesis of human genetics research in the public-facing information ecosystem
Genetics research frequently intersects with ethnicity, nationality, and race, making it uniquely vulnerable to misrepresentation. Yet, 25 years after the initial sequencing of the human genome, there...
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Dr. Serge Zaka @sergezaka.bsky.social · 21/07/2026
En brûlant une partie de la canopée et en réduisant fortement la photosynthèse, la canicule et la sécheresse de juin 2026 ont impacté nos écosystèmes à des niveaux jamais vu (jusqu'à plus de 50 % de baisse de l'activité des feuilles, de la Vendée à la Bourgogne). 1/7
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loic-yengo.bsky.social @loic-yengo.bsky.social · 21/07/2026
Come and join our dream team! We’re recruiting a PhD candidate with a strong background in statistics, machine learning and (human) genetics to work at the interface of biological sequence foundational models and scores polygenic score methods.
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George Davey Smith @mendelrandom.bsky.social · 13/07/2026
Read this academic.oup.com/ije/article/... will convert boredom to soothing sleep
academic.oup.com
Epigenesis for epidemiologists: does evo-devo have implications for population health research and practice?
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Susan Johnston @susanjohnston.bsky.social · 22/06/2026
Still some time to apply to our postdoc position - deadline 3rd July. I'll be at #SMBE2026 if anyone would like to chat about it 😊
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William Blanc @hmedievaliste.bsky.social · 12/06/2026
Hier matin, des militants d’extrême droite ont occupé la cathédrale de Saint-Denis et se réclamant de Charles Martel. Quelques rappels sur cette figure historique pour arrêter de raconter n’importe quoi. À dérouler 🧵🧵🧵 Poke @libertalialivre.bsky.social @naudinchristophe.bsky.social
bfmtv.com
Une banderole "remigration" déployée sur la basilique Saint-Denis, la mairie va porter plainte et dénonce l'action d'un groupe de militants d'extrême droite
Les faits se sont déroulés tôt, aux alentours de 5 heures, ce jeudi 11 juin à Saint-Denis (Seine-Saint-Denis). L'action a été revendiquée par le groupe "Objectif Remigration"
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Nikhil Milind @nikhilmilind.dev · 27/05/2026
I'm excited to share that our work studying gene dosage response curves (GDRCs) is now out in Cell Genomics (@cellpress.bsky.social). www.cell.com/cell-genomic... [1/n]
cell.com
Buffering of gene dosage response curves for human complex traits
Milind et al. explore why loss-of-function variants and duplications tend to have average effects in the same direction on 94 complex traits. Using gene dosage response curves (GDRCs), they gather evi...
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Dr. Serge Zaka @sergezaka.bsky.social · 24/05/2026
1/3] C'est de + en + certain, on devrait atteindre les seuils de "vague de chaleur" pour la 1ère fois de l'Histoire en mai. J'ai dû revoir les légendes et étendre les axes pour vous rendre compte de l'ABBERATION STATISTIQUE. Partagez ces figures FACTUELS sous tous les postes qui le nécessitent.
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Ramina Sotoudeh @ramina-sotoudeh.bsky.social · 07/05/2026
🚨New in PNAS: www.pnas.org/doi/abs/10.1... Genetic principal components (PCs) are commonly used to adjust for population stratification in genetic studies. In this paper, we quantify how much direct genetic signal is lost when using these “catch-all” adjustments. 🧵
pnas.org
Quantifying direct genetic signal captured by principal component adjustment | PNAS
Contemporary genomic studies of complex traits, such as genome-wide association studies and polygenic index (PGI) analyses, frequently include the ...
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Nicky Whiffin @nickywhiffin.bsky.social · 18/05/2026
🚨 New preprint led by super⭐ PhD student Anthony (@amcguigan.bsky.social) 🥳 He studied homozygous deletions genome-wide using genome sequencing data in the amazing @genomicsengland.bsky.social NGRL See Anthony's 🧵for a summary 👇
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Luke Pilling @lcpilling.bsky.social · 30/04/2026
GWAS meta-analysed summary statistics for 72 long-term conditions from the GEMINI collaborative updated to v1.1 🌟 The input GWAS are the same but we have fixed several minor issues since the original release v1.0 See our GitHub for links (incl. to Zenodo) github.com/GEMINI-multi...
github.com
GEMINI
GEMINI: Genetic Evaluation of Multimorbidity towards INdividualisation of Interventions - GEMINI
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
📣 𝐖𝐞’𝐫𝐞 𝐡𝐢𝐫𝐢𝐧𝐠 𝐚 𝐩𝐨𝐬𝐭𝐝𝐨𝐜 𝐢𝐧 𝐩𝐨𝐩𝐮𝐥𝐚𝐭𝐢𝐨𝐧 & 𝐬𝐭𝐚𝐭𝐢𝐬𝐭𝐢𝐜𝐚𝐥 𝐠𝐞𝐧𝐞𝐭𝐢𝐜𝐬! 🌍📈🧬 If you’re finishing a PhD (or know someone who is) and want to work on complex trait biology + 𝑟𝑒𝑎𝑙-𝑤𝑜𝑟𝑙𝑑 𝑖𝑚𝑝𝑎𝑐𝑡, read on 👇
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Cristian Pattaro @cpattaro.bsky.social · 02/04/2026
Inclusion bias in #GWAS of #EHR traits "By weighting the sample using inverse probability weights derived from probabilities of enrollment, we replicate 54% more known GWAS variants" 😱 #statgen www.cell.com/ajhg/fulltex...
cell.com
Inclusion bias affects common variant discovery and replication in a health-system linked biobank
We quantify inclusion bias in a health-system-linked biobank using classification models to distinguish enrolled individuals from the background population. To evaluate its impact on genetic findings ...
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Reposted by Thibaud Boutin 🧬💻 🧀
Chris Wallace @chr1sw.bsky.social · 31/03/2026
A thought about job adverts. I assume seeking "exceptional" individuals selects for specific character traits (eg self confidence). My goal is to get candidate with best potential, even if they don't yet think of themselves that way. What words do you use to encourage the widest pool of applicants?
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Huisheng (Julie) Zhu @huishengzhu.bsky.social · 30/03/2026
Why do schizophrenia GWAS signals look so flat across the genome? In our recent preprint, we explored why psychiatric disorders — and, more broadly, brain-related traits involving the central nervous system — appear to have unusual genetic architectures. 🧵1/n
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James Balamuta @coatless.bsky.social · 23/03/2026
29 years of #rstats community knowledge was sitting in hard-to-search pipermail archives. So I built a more modern home for it. Introducing the R Mailing List Archives: 631,000+ messages from 32 lists, fully searchable and available as open data. r-mailing-lists.thecoatlessprofessor.com
Homepage of the R Mailing List Archives showing a search bar, three popular lists (R-help with 398,500 messages, R-devel with 63,425, and R-package-devel with 12,125), and a full directory of core lists and special interest groups.
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George Davey Smith @mendelrandom.bsky.social · 17/03/2026
Failure to understand that the fundamental principle of Mendelian randomization (MR) is of gene-environment equivalence contributes to the flood of nonsense MR papers that are appearing; Shah Ebrahim, Gib Hemani and I explain why in this short commentary. journals.plos.org/plosmedicine...
journals.plos.org
Gene-environment equivalence: The fundamental principle of Mendelian randomization
In this Perspective, George Davey Smith and colleagues outline how and why gene-environment equivalence, the fundamental principle of Mendelian Randomization (MR), must be properly applied and critica...
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Alexis Battle @alexisbattle.bsky.social · 12/03/2026
New review on context-specificity and disease genetics from @ygilad.bsky.social and me: authors.elsevier.com/sd/article/S...
authors.elsevier.com
ScienceDirect.com | Science, health and medical journals, full text articles and books.
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Nicholas Mancuso @nmancuso.bsky.social · 12/03/2026
This paper is bananas. I love everything about this. Such a fantastically smart design, signals popping out like nobody's business. www.biorxiv.org/content/10.1...
biorxiv.org
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Abdel Abdellaoui @dr-appie.bsky.social · 10/03/2026
If you're looking to build or deepen your knowledge in statistical genetics, the ISG Workshop (June 1–11) covers the full range: biometrics, GWAS, polygenic scores, causal inference, and more. Open to all levels, virtual, and international: www.colorado.edu/ibg/workshop... Retweets appreciated 🙏
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Tatiana Giraud @tatianagiraud.bsky.social · 07/03/2026
La Biodiversite en Infographies sort ce jeudi 12 mars! Pour comprendre l'effondrement du vivant, pourquoi c'est un grave problème et ce qu'on peut faire de vraiment efficace, avec des données scientifiques représentées clairement..aux editions Tana
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Michel Nivard @michelnivard.bsky.social · 19/02/2026
years ago my student and I translated LD score regression form Python to R, it took months, and LDscore at the time was like 3/4 reasonably functions! Translating EdgeR to Python in a week is absolutely crazy…
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Graham Coop @gcbias.bsky.social · 15/10/2025
We're excited to be recruiting an NIH funded postdoc to work in the Coop lab at UC Davis. We're specifically interested in candidates who are want to work at the intersection of human genetics, GWAS, and population genetics modeling. Please RT
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Kevin Lala @kevinlala.bsky.social · 30/01/2026
I am happy to share this article, entitled "The importance of Biological Theory". It is my inaugural editorial as the new Editor-in-Chief of @biologicaltheory.bsky.social . In these complex and challenging times, theory is more important now than ever. Enjoy! doi.org/10.1007/s137...
doi.org
The Importance of Biological Theory - Biological Theory
Biological Theory -
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Michel Nivard @michelnivard.bsky.social · 16/12/2025
Compress the entire 2000 sample 80 million variant 100 genomes dataset (800gb in its usual VCF) into 1Gb….
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Abdel Abdellaoui @dr-appie.bsky.social · 10/12/2025
For more context, see also the @nature.com News & Views article about this work, where I unpack what it means when genetic risk for psychiatric disorders overlaps with normal-range traits, including some positive associations with education-related outcomes: rdcu.be/eT4U7
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Alicia Martin @genetisaur.bsky.social · 28/11/2025
Interested in pleiotropy dissection but not sure where to start, which methods are useful, which studies offer illustrative examples, or how to robustly validate your results? Look no further 👀 rdcu.be/eSfAZ
rdcu.be
Dissecting pleiotropy to gain mechanistic insights into human disease
Nature Reviews Genetics - Genome-wide association studies of increasing scale have revealed the prevalence of pleiotropic genetic variants that affect multiple traits. In this Review, the authors...
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Konrad @konradjk.bsky.social · 18/09/2025
A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...
nature.com
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics
Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...
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loic-yengo.bsky.social @loic-yengo.bsky.social · 12/11/2025
First time on Bsky and first big announcement! I am excited to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Our manuscript is here: www.nature.com/articles/s41....
nature.com
Estimation and mapping of the missing heritability of human phenotypes - Nature
WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 co...
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Jeff Spence @jeffspence.github.io · 07/11/2025
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...
nature.com
Specificity, length and luck drive gene rankings in association studies - Nature
Genetic association tests prioritize candidate genes based on different criteria.
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Jonathan Pritchard @jkpritch.bsky.social · 07/11/2025
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:
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Jeremy Schwartzentruber @jeremy37.bsky.social · 05/11/2025
Let’s talk about rare variant association tests - we have a new method that helps you discover more with the same data! It’s called *FlexRV* to signal our approach: “flexibly modeling rare variant pathogenicity improves gene discovery for complex traits”. www.biorxiv.org/content/10.1...
biorxiv.org
Flexibly Modeling Rare Variant Pathogenicity Improves Gene Discovery for Complex Traits
Rare variant burden tests can directly identify genes that influence complex traits, but their power is limited by our ability to separate functional from benign alleles. We introduce FlexRV, an appro...
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Chris Wallace @chr1sw.bsky.social · 30/10/2025
New: GWAS of serurm antibody levels. Interesting findings include genetically correlated traits with hard-to-find shared causal variants, and apparently genetically uncorrelated traits sharing causal variants that operate in inconsistent directions www.medrxiv.org/content/10.1...
medrxiv.org
Large-scale GWAS meta-analysis of serum antibody levels reveals distinct genetic architectures
Antibodies are the principal effector proteins of humoral immunity. Dysregulated antibody production is a feature of a number of heritable immune-mediated diseases, such as the antibody deficiencies a...
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Uku Vainik @ukuvainik.bsky.social · 24/10/2025
I know that Galton called out for sharing data in 1901
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Andrea Ganna @andganna.bsky.social · 30/09/2025
🧬💥 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
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Michel Nivard @michelnivard.bsky.social · 19/09/2025
Apply to do a PhD with me, Laura Corbin, Gareth Hawkes and George Davey Smith ( @mendelrandom.bsky.social) in Bristol on identifying rare effects on health using new and innovative methods. Amazing team, great educational environment, lovely city. Forward to your undergrads wrapping up!
gw4biomed.ac.uk
Shining a light on the un-common to identify novel health risk-factors - GW4 BioMed MRC DTP
Project Code MRCPHS26Br Nivard Project Type Dry lab Research Theme Population Health Science Project Summary Download Summary Complex traits such as body mass index and height are influenced by a mixt...
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Abdel Abdellaoui @dr-appie.bsky.social · 08/09/2025
Some people call it a minefield. Others call it dangerous, even irresponsible. I call it the most promising field in life sciences. My love letter to social science genetics: communities.springernature.com/posts/a-love...
communities.springernature.com
A Love Letter to Social Science Genetics
Some people call social science genetics a minefield. Others call it dangerous, even irresponsible. I call it the most promising field in life sciences.
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Shai Carmi @shaicarmi.bsky.social · 11/09/2025
Brilliant paper by Visscher et al. Populations differ in traits/disease burden. Are these differences due to genetics? Comparing single variants or polygenic scores between populations is biased due to environmental confounders correlated with the variants. 1/3 www.medrxiv.org/content/10.1...
medrxiv.org
Direct effect of genetic ancestry on complex traits in a Mexican population
Human populations differ in disease prevalences and in average values of phenotypes, but the extent to which differences are caused by genetic or environmental factors is unknown for most complex trai...
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Peter Kraft @peter-kraft.bsky.social · 02/09/2025
Multi-ancestry GWAS can increase power and precision, but how should we analyze them? Pooled or stratified? We answer that question in a paper out today in AJHG, led by Julie Dias and Haoyu Zhang. 1/7 www.cell.com/ajhg/fulltex...
cell.com
Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications
Multi-ancestry GWASs enhance discovery in diverse populations, but optimal methods remain debated. Using theory, simulations, and analyses from the UK Biobank and All of Us, we show that pooled analys...
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Marijn Schipper @mjschipper.bsky.social · 11/02/2025
Incredibly proud to see our latest work out in Nature Genetics: www.nature.com/articles/s41... Here we share our FLAMES framework, which predicts the effector genes in GWAS loci with state-of-the-art precision🔥 Special thanks to @daniposthu.bsky.social A full thread describing findings below!
rdcu.be
Prioritizing effector genes at trait-associated loci using multimodal evidence
Nature Genetics - FLAMES is a machine learning approach combining variant fine-mapping, SNP-to-gene annotations and convergence-based gene prioritization scores to identify candidate effector genes...
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Michel Nivard @michelnivard.bsky.social · 28/11/2024
🚨 This will become a curated list of awesome tools for complex trait genetics, **add yours**! it may become a review in which case those who contribute are invited as co-authors.
github.com
GitHub - MichelNivard/awesome-complex-trait-genetics: A list of awesome tools for complex trait genetics.
A list of awesome tools for complex trait genetics. - MichelNivard/awesome-complex-trait-genetics
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Danielle @daniposthu.bsky.social · 11/02/2025
Just out from #ctglab by @mjschipper.bsky.social - our new tool FLAMES 🔥🔥, to identify the most likely causal genes in GWAS loci, using machine learning techniques, thoroughly benchmarked and freely available Paper: rdcu.be/d9iQP Code: github.com/Marijn-Schip...
rdcu.be
Prioritizing effector genes at trait-associated loci using multimodal evidence
Nature Genetics - FLAMES is a machine learning approach combining variant fine-mapping, SNP-to-gene annotations and convergence-based gene prioritization scores to identify candidate effector genes...
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Emil Uffelmann @euffelmann.bsky.social · 06/08/2025
📣 New paper published in @natcomms.nature.com‬, where we explored sex differences in local genetic correlations, local heritabilities, and magnitude of effect sizes in quantitative traits. link: rdcu.be/ezuZd 1/7
rdcu.be
Local genetic sex differences in quantitative traits
Nature Communications - Analysing 157 traits, this study finds widespread local genetic sex differences masked at the genome-wide level. Using LAVA, it tests for sex-specific heritability, genetic...
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Cedric Boeckx @cedricboeckx.bsky.social · 06/08/2025
Good discussion & study-design recommendations in this new preprint by @mikelove.bsky.social @klmohlke.bsky.social & colleagues: Higher eQTL power reveals signals that boost GWAS colocalization 🧪🧬 www.biorxiv.org/content/10.1...
biorxiv.org
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...
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Robin Hofmeister @rjhfmstr.bsky.social · 06/08/2025
🚨 Our parent-of-origin study is out in Nature! 🧬 Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss. 🔗 www.nature.com/articles/s41... Highlights below!
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UK Biobank @ukbiobank.ac.uk · 06/08/2025
✅ Published in @natureportfolio.nature.com today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants. Read here: www.nature.com/articles/s41...
nature.com
Whole-genome sequencing of 490,640 UK Biobank participants - Nature
A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation a...
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Perline Demange @perlinedemange.bsky.social · 06/08/2025
How much do people know and understand what their administrative and health data is used for? Another story of consent for genetic data use this week.
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