Out now in @natgenet.nature.com, our Comment analyzing uses of the Human Genome Diversity Project (HGDP), a controversial dataset in human genomics research. A 🧵 rdcu.be/eRu65 1/

Today is the International day for the elimination of violence against women. In 2024, an estimated 50,000 women and girls were killed by intimate partners or family members worldwide. That is 137 women and girls every day. One every ten minutes. www.un.org/en/observanc...

A reminder that MODY (and type 1 diabetes) can present in older individuals and must remain in the differential diagnosis for new onset #diabetes across the lifespan diabetesjournals.org/diabetes/art...

The US FDA approved the first cancer drug based on Broad discoveries. Developed by Bayer Healthcare Pharmaceuticals through its research alliance with Broad, this drug is approved for a type of lung cancer that previously had few treatment options. @danafarber.bsky.social

Scientific breakthroughs are rarely unique; someone else would’ve made them soon enough. But when prominent scientists cause harm, that harm isn’t inevitable; the world might simply have been better had the harm not been inflicted. liorpachter.wordpress.com/2018/05/18/j...

We have a new open position to analyze large-scale genomic datasets and EHR data to better understand and improve care for type 2 diabetes and monogenic diabetes, in collaboration with Chirag Patel, Miriam Udler, Aaron Leong, and many others. Please share! broadinstitute.avature.net/en_US/career...

The recording of "Gene-environment interactions: a genome-wide perspective" by Kenny Westerman is now available: www.youtube.com/watch?v=ukiX.... This talk is part of @broadinstitute's MPG Primer series. For more info, check out broad.io/MPGPrimer

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

🎉 Congrats to Julie-Alexia Dias and thanks for the shout out to @prsmethods.bsky.social ! "Some of the most formative parts of my own training have come from working across groups and institutions...through my involvement in PRIMED (Polygenic Risk Methods Development)..."

We’ve put up summary statistics for over 3,000 traits in the All of Us resource, and a shiny new browser alongside it! Explore your favorite gene or phenotype here: allbyall.researchallofus.org #ASHG24

A new @natgenet.nature.com study by Broad, @mgbresearch.bsky.social, and VA Boston collaborators reveals a genetic variant that helps explain the high dilated cardiomyopathy risk in people of African ancestry.

👀 🔖 ICYMI @prsmethods.bsky.social investigators report on incorporating social determinants of health into disease prediction in the NIH All of Us research program - www.medrxiv.org/content/10.1...

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

🚨 Using the GWAS Catalog “All associations” tsv download file? We recently made some changes that may affect your pipelines. The data now includes >1m curated associations! This means the “All associations” file is extremely large! In the latest release, you now have a choice of two formats 👇

Very proud of four posters presented by our team right now (2.30) from: @aliciahuerta.bsky.social, Katie Taylor, Maheak Vora, Harsh Wadhwa , and Thinley Wangden.

Here’s a look at today’s FinnGen-related posters at #ASHG25, showcasing some of our research community's latest discoveries.

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

Attending #ASHG25? Learn how @prsmethods.bsky.social investigators are improving polygenic risk prediction in diverse populations by visiting these talks and posters docs.google.com/spreadsheets...

After yrs of disappointment scientists have made a genuine advance in treating Huntington's. The new gene therapy slowed disease progression by 75%. But it's still experimental and will likely be $$, @parshallison.bsky.social reports for @sciam.bsky.social: www.scientificamerican.com/article/firs...

We’re getting ready for an exciting week at #ASHG2025 in Boston! Come meet the FinnGen team at booth 147 - we’ll be sharing updates and showcasing new public resources and tools. Plus, don’t miss the various presentations featuring FinnGen results across the program! www.finngen.fi/en/meet-finn...

📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).

GWAS finds millions of variants — but what are the Predicted Effector Genes (PEGs)? Our Nature Genetics Perspective rdcu.be/eoqVk showed big inconsistencies. At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR. 🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A 📌Poster: Oct 16 | 2:30

Exome-wide association study in 54,698 south Asians identifies novel type 2 diabetes associations with RNF19A, HNF4A, and dissects role of coding variants in GP2 and CDKAL1 https://www.medrxiv.org/content/10.1101/2025.09.24.25336527v1

Massive sibling regression study finds that human traits are largely environmentally driven (average heritability = 0.3)

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...

I’m excited to share the 2 newest Neonatal diabetes genes: RNU4ATAC and RNU6ATAC. These genes encode snRNA components of the minor spliceosome and biallelic variants in them cause monogenic autoimmune diabetes. If you are at #EASD, come to Matt Johnson’s talk Tuesday @4pm in Milan hall to hear more.

I'm hiring a computational biologist interested in complex trait genetics using deep learning approaches. Reach out to me, if interested.

Delighted to amplify my talented PhD student’s work! Check it out for a great way to streamline and harmonize Tractor analyses.

Gut hormones suppress bone turnover and resorption. Some new acute studies in #T2D academic.oup.com/jcem/advance...?

I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:

Are electronic health records (EHR) more predictive of disease onset than polygenic scores? Can we transfer EHR-based prediction models between countries? Our study on these questions using 3 biobank-based studies with N>845K, is out in @natgenet.nature.com today: www.nature.com/articles/s41...

Sharing a global effort to develop PRSs for T2D in multiple ancestries. www.medrxiv.org/content/10.1... funded by NHGRI @prsdiversity.bsky.social #D_PRISM Collab with Maggie Ng, with Tian Ge, Alisa Manning, Marie Loh, Piper Below, Xueling Sim, led by star @aliciahuerta.bsky.social and Joohyun Kim

A large-scale kidney proteomics study uncovers proteins and targetable mechanisms prioritized for CKM diseases www.nature.com/articles/s41...

New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics

Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1

At #ADA2025, Josep Mercader discussed how multi-ancestry PRS for T2DM offer better prediction—especially when overlaid with clinical risk factors. @amdiabetesassn.bsky.social @josepmercader.bsky.social #ADASciSessions #genomics #PRS #T2D #ancestryinresearch

I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:

🚨 New perspective piece in @ajhgnews.bsky.social! 🚨 We developed a hands-on training resource for large-scale genomic data analysis in the All of Us Researcher Workbench, now published here:

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!

Their shows have a magical alchemy that intrigues but doesn’t trigger nervous systems into overdrive. The kids’ internal worlds are richer for the thoughtful ways the stories explain the how to human. I encourage everyone to support their local PBS to keep this valuable work free as a public good.

New proteotoxicity insights as LONP1 promotes β cell survival and prevents hyperglycaemia by facilitating mitochondrial protein folding #diabetes #T2D @soleimanpourlab.bsky.social @naturemetabolism.bsky.social www.nature.com/articles/s42...

Here the authors propose that polygenic risk scores PGSs have the potential to improve #obesity prediction, particularly when implemented early in life www.nature.com/articles/s41...

it's wild that R, the ubiquitous statistical computing language, was co-created by a Māori prof (Ross Ihaka) — and yet the vast majority of scientists who use R don't know this is like inventing the toaster. possibly the largest impact of a single member of an indigenous community on modern science

I've always found @soumya-boston.bsky.social's research to be absolutely fascinating, and I'm excited to bring him on-stage for the next talk in the @broadinstitute.org's Broad Discovery Series. Join us in-person or online on 8/14!

📣Online now! 📄Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations 🧑‍🤝‍🧑 @geyuzhou.bsky.social & colleagues

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!

Preventing #T1D www.nature.com/articles/s41... @natrevendo.nature.com

📢 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

To add to your weekend reading, check out this nice report on the Genes & Health cohort from Hye In Kim, David van Heel and many many more: www.medrxiv.org/content/10.1...