Can we quantify the impact of individual DNA mutations on healthcare costs? In our new preprint we ran the largest GWAS of healthcare costs to date: 1,429,889 individuals, 11 cohorts, 7 countries, across inpatient, outpatient, primary care, and prescription expenditure 💰🧬

So excited to see this published! This method was a long time in the making and is now being widely used to balance scale with depth, especially for participants where unbiased sequencing approaches are so much more useful than arrays

Broad Institute@broadinstitute.org · 4w ago

Broad scientists developed the Blended Genome Exome (BGE) sequencing method, which delivers high-quality, unbiased data at a lower cost than existing gold-standard methods and makes large-scale genetic studies more feasible. @genetisaur.bsky.social

📢 #TOPMed e/sQTL atlas is out in @science.org today! Happy to contribute to this amazing team effort and rich resource for the genomics community: 69k cis-eQTL + 35k cis-sQTL across 6 tissues/cell types and diverse ancestries. Still more to discover 😉🧬 www.science.org/doi/10.1126/...

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed

Most genetic variants associated with complex traits are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterized 14,324 RNA-sequen...

science.org

🧬Online now! 📄 #GWAS and predictors of neonatal blood cell traits in Hispanic newborns 🧑‍🤝‍🧑 @adamdesmith.bsky.social @lindakachuri.bsky.social & co

Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns

We identified six genetic loci associated with neonatal lymphocyte-related traits through GWAS in 382 Hispanic cord blood samples and found that delivery mode and biological sex shaped immune cell com...

cell.com

Excited to see @jonj-udd.bsky.social's fantastic work out @genetics-gsa.bsky.social. Selection in _heterozygotes_ is the primary force shaping allele frequencies of loss-of-function mutations in humans, even in genes only associated with purely recessive diseases. 🧪🧬 doi.org/10.1093/gene...

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes

Abstract. The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model pred

doi.org

I'm excited to share that I have been awarded a postdoctoral fellowship from the @stanford.edu Center for Computational, Evolutionary and Human Genomics (CEHG)! stanfordcehg.wordpress.com/2026/05/29/a...

Announcing the 2026-27 CEHG Fellows

CEHG received a stunning amount of qualified applicants to this year’s fellowship cycle! We will be supporting six PhD students and three postdoctoral scholars across various disciplines this…

stanfordcehg.wordpress.com

Contextualizing the Utility of Polygenic Risk Scores using Absolute Risk Models in Diverse Ancestry Populations www.medrxiv.org/content/10.6... I don't think Nilanjan is on bluesky so cross-posting his preprint (and linkedin summary) here: www.linkedin.com/posts/nilanj...

This security guard died protecting children at the Islamic Center of San Diego. If you can help support his family, it would go a long way. www.launchgood.com/v4/campaign/...

Support family of Amin Abdullah, Islamic Center of San Diego Martyr | LaunchGood | LaunchGood

Amin was the security guard at the Islamic Center of San Diego. Police say his actions kept Monday's attack from being far worse. Remember his legacy with us!

launchgood.com

🧬New today! 📄Inclusion bias affects common variant discovery and replication in a health-system linked biobank 🧑‍🤝‍🧑 @loldeloo.bsky.social @apimplaskar.bsky.social @bpasaniuc.bsky.social & colleagues

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 ...

cell.com

An inspiring message of hope and resilience in these dark times. I am so proud to call Karl my friend. He is a true leader and his work and outlook make me feel optimistic about the future of cancer research. @karlsmithbyrne.bsky.social @oxpop.bsky.social

The Times and Sunday Times@thetimes.com · 4mo ago

Cancer almost killed me. We’re treating this disease all wrong

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...

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...

journals.plos.org

I’m honored and excited to join the Board of Directors! IGES is home to such a vibrant and welcoming scientific community, I look forward to helping it continue to thrive! 💟🧬 Join us for IGES 2026 in beautiful Estérel, QC 🍁 Abstract submission is open until May 30 www.geneticepi.org/2026-annual-...

International Genetic Epidemiology Society@geneticepi.bsky.social · 5mo ago

Congratulations to the winners of this year's IGES leadership elections! 🎉🎉🎉 • President Elect: Elizabeth Blue • Treasurer: Cheryl Cropp • Board of Directors: @lindakachuri.bsky.social and @burcudarst.bsky.social

We are very happy to see our study finally appear online @nature.com! This has been work of nearly 10 years in collaboration with the National Institute of Genome Medicine 🇲🇽, the National Cancer Institute 🇲🇽, the @sangerinstitute.bsky.social and others ⬇️ www.nature.com/articles/s41...

Ancestry and somatic profile indicate acral melanoma origin and prognosis - Nature

Analysis of the somatic and transcriptomic profile of 123 acral melanoma samples from Mexican patients helps understand tumour origins and prognosis, and highlights the importance of including samples...

nature.com

✅ The UK Government has today granted access to half a million UK Biobank participants' coded GP data for health research. This change will dramatically increase the power of UK Biobank's dataset to advance the diagnosis, treatment and management of conditions handled by GPs.

In What We Inherit, Sam Trejo and @daphmarts.bsky.social debate the use of genomic tools and their societal impact. Now available (31 March UK pub). Learn more about this fascinating book: press.princeton.edu/books/hardco... #Biology #ReadUP

The Perturbation Catalogue is live! 🧬🔎🖥️ It aims to bring genetic perturbation data into one curated, harmonised, and discoverable platform. Take a look! www.ebi.ac.uk/perturbation...

Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

How do the metabolic waste products get cleared from our brain? And how does this process intersect with the brain's immune system? An exceptional review by @jonykipnis.bsky.social and colleagues cell.com/neuron/fullt...

Resolving the mysteries of brain clearance and immune surveillance

This review by Kipnis et al. explores recent advances in brain fluid dynamics, emphasizing CSF flow’s role in waste clearance, the glymphatic and meningeal lymphatic systems, and neuroimmune interacti...

cell.com

Excited to welcome @nmancuso.bsky.social! Join us tomorrow to learn about cutting edge methods for investigating regulatory genetic effects in diverse cell types and populations! 🧬🤩 @dbdsstanford.bsky.social @stanfordeph.bsky.social

Nicholas Mancuso @nmancuso.bsky.social · 9mo ago

Looking forward to presenting our work on characterizing eqtl architecture across ancestors and cells tomorrow at the Evolgenome seminar! Huge thanks for the invite @lindakachuri.bsky.social

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

Genomic superstar @chundru.bsky.social taking on fake-news genotypes in >900k individuals. He shows allele-level filtering is rarely suffifient, and makes the brave choice to properly tackle chrX! We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space

Kartik Chundru@chundru.bsky.social · 9mo ago

New paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”

A few programming notes for #ashg25 from trainees in my group @mdanderson.bsky.social + a thread of me being a proud PI. Please drop by these sessions and talk to @taylorhead.bsky.social, @seantbres.bsky.social , @ytchang11.bsky.social, and me in Boston @geneticssociety.bsky.social next week!

Samples of DNA collected from thousands of Ukrainians are part of a study probing the genetics of type 1 diabetes. https://scim.ag/4nabr6B

Amid war, a Ukrainian genomics research program blooms

Inaugural project for new center searches for genes involved in diabetes

science.org

Can anyone recommend a good immigration lawyer?

Happy to see this online! Having an extra sex chromosome really challenge the binary definition of sex based on XX and XY. So it is not only a medical, but also an important societal question.

The American Journal of Human Genetics@ajhgnews.bsky.social · 12mo ago

📣Online now! 📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank @finngen.bsky.social @ukbiobank.bsky.social

Grateful for this terrific commentary by @tomonroe.bsky.social in @jclinical-invest.bsky.social on our paper that is out in final print format today: www.jci.org/articles/vie... Please check it out: www.jci.org/articles/vie...

Our new AJHG paper is online. We develop a new TWAS tool that uses local-ancestry information to improve power of gene mapping in admixed samples. Lead author Taylor Head (now at MD Anderson) did a phenomenal job spearheading this work!

The American Journal of Human Genetics@ajhgnews.bsky.social · last yr.

🚨New method! 📄CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data 🧑‍🤝‍🧑 @epsteinstatgen.bsky.social @yjingj.bsky.social & co

A final point about trust. Herasight has apparently partnered with Heliospect Genomics, founded by self-described eugenicist Jonathan Anomaly (a member of both companies). Anomaly and Heliospect were profiled last year by Hope Not Hate: investigations.hopenothate.org.uk/superbaby-fa...

We have 2-3 group leader positions opening @fimm-uh.bsky.social !! We are looking for outstanding candidates in human genetics and precision medicine. This time we have a focus on population health data science. E.g. AI for EHR/health data        Generous starting package 💰 shorturl.at/FAk6n

FIMM-EMBL Group Leaders in Molecular Medicine

FIMM-EMBL Group Leaders in Molecular Medicine

jobs.helsinki.fi

Super excited to see this out. What started as some math in a grant in 2020, to a student deciding to take this on in 2022, to published in 2025. These things can take time and patience is key!

Nature Genetics@natgenet.nature.com · last yr.

📢OUT TODAY @natgenet.nature.com 📰Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk. By @zeyunlu.bsky.social, @nmancuso.bsky.social and colleagues. ⬇️ www.nature.com/articles/s41...