A remarkable use of array data in individuals of recent admixture with and without familiar relationships. It’s surprising that BMI’s heritability came this high using a snp-based approach.

From 0% to 80% in less than 35 minutes! 🤯

🚨 The older the sperm, the more likely it is to cause autism Sequencing sperm using nearly error-free sequencing → measure % sperm carrying disease-causing mutations: 2% at age 30 → 4.5% at 70 Most were autism genes New paper in nature today 🧵

Why does the naked mole rat have the longest lifespan and healthspan of any rodent, nearly 40 years? A 30-year long mystery unraveled Science Magazine today! Its cGAS enzyme in cells has 4 missense mutations that upends its function, promoting DNA repair and suppressing

Perfectionists spend too much time on little differences at the margins at the expense of the important things. There are typically just five to ten important factors to consider when making a decision. It is important to understand these really well, though the marginal gains of

Finally, someone has solved a real problem with AI! No more having to take a paper in the format for a journal that rejected you, and reformat it for a new journal. Well done!! formatmypaper.com

Presented at #ASHG25: Decisions about critical care are almost always made without access to genetic information. Wojcik and colleagues report the application of a new method of DNA sequencing in infants in a neonatal intensive care unit. Read more: nej.md/4qg4KlE

🎉 New preprint out! "Removing genetic effects on plasma proteins enhances their utility as disease biomarkers" We show that adjusting plasma proteins for genetic effects can make them stronger predictors of disease 👉 doi.org/10.1101/2025.1…

This thread goes into the risks associated with pursuing a PhD (in Sweden). It’s an intense experience that may not be suitable for everyone, but it undoubtedly prepares you for the significantly more challenging path that awaits after graduation. It’s intriguing to consider that

Many people ask me "Should I get a Galleri blood test for early cancer detection?" Here are the latest data erictopol.substack.com/p/the-largest-…

Rare loss-of-function variants are natural experiments of the impact of a gene on health traits. This is even more pronounced in homozygous individuals (knockout) for these variants. The Genes & Health study, enriched for homozygosity (n=1569), combined 👉whole-exome

I am super excited to share a new AI tool, Refine. Refine thoroughly studies research papers like a referee and finds issues with correctness, clarity, and consistency. In my own papers, it regularly catches problems that my coauthors and I missed. 1/

congrats to sarah, mike, mike, steve, kat and the rest of the team. the largest dev stage deal of the year at 12b. smart move by novartis to act, avidity had one of the highest odds of joining the ranks of large biotechs the next couple yrs. novartis.com/news/media-rel…

Today in Orli Bahcall, we report the discovery of a common CD36 variant specific to individuals of African ancestry that increases risk of DCM, and may help explain the ~2x higher rate of DCM/heart failure in this population nature.com/articles/s4158…

Three basic science studies this week with potential big impact for cancer treatment (and beyond) 1. Determining why BRCA2 cancers are resistant to current therapies Science Magazine science.org/doi/10.1126/sc…

One of the most thrilling World Series endings I can recall. Congratulations to the Dodgers!

Next in line: Sahar M. from my team at Maze Therapeutics. In room 362A “Experimentally Validated SLC6A19 Loss-of-Function Variants Improve Kidney Function and Reduce Progression to Kidney Failure” #KidneyWk

Time for another cup !

Three novel genes have been identified for ADHD. Carriers of rare protein variants in these novel genes have significantly higher odds ratios (ranging from 5.55 to 15.13). These effect sizes are crucial for obtaining a significant p-value in a study with a sample size of 9,000

The more exercise in mid- and late-life, the less Alzheimer's and all-cause dementia, adjusted for all known risk factors jamanetwork.com/journals/jaman…