Thrilled to share our new @natcomms.nature.com paper on local ancestry informed allele frequencies in gnomAD, which are live now on the browser! Check out my stellar PhD student @pragskore.bsky.social’s Bluetorial on how this brings finer detail to variant interpretation 🧬🖥️

How do experts gain intuition?💡

I argue:
1. expert intuition (“fast”) = pattern-matching on past experiences
2. careful reasoning (“slow”) = confronting a new scenario with step-wise thinking
3. wise decision-making toggles between both styles

Read the new post: tinyurl.com/28tb33fc

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...

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...

Check it out! And huge shout out to the amazing team: @carlawinter.bsky.social, @kaitavjeet.bsky.social, Deb Plana, Preston Ge, and Dan Rubin

We welcome any and all thoughts and ideas 💡

After years of chats, friends from my MD/PhD program and I launched a nerdy blog about science + medicine.

We explore everything from evolutionary theory to big data in science. @kaitavjeet.bsky.social just posted on the power of abstraction in biology 🧫

emergentpropertiesblog.com/2025/08/19/a...

Thanks for the post @whansi.bsky.social!!

Mechanism of age-related accumulation of mitochondrial DNA mutations in human blood One of the strongest signatures of aging is an accumulation of mutant mitochondrial DNA (mtDNA) heteroplasmy. Here we investigate the mechanism underlying this phenomenon by calling mtDNA sequence, ab...

Exciting preprint from @rahulg603.bsky.social and colleagues!

Mechanism of age-related accumulation of mitochondrial DNA mutations in human blood
www.biorxiv.org/content/10.1...

Amazing collaboration with folks from the groups of Vamsi Mootha and Ben Neale at @broadinstitute.org @mgbresearch.bsky.social @harvardmed.bsky.social

In addition to the deep dive into mtDNA mutation accrual, our 750k dataset provides additional power for GWAS for mtDNA copy number and common indel heteroplasmies, yielding new insights into nuclear influences over mtDNA.

Plot showing an increase in mitochondrial DNA heteroplasmic SNV count as a function of age.

Using population and statistical genetics across 750,000 people, we believe we have identified a putative mechanism for an important aging biomarker: the apparent age-related mtDNA mutation accrual in blood. Very excited this is up!

broad.io/7b3tuy

Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms Leveraging Finnish nationwide multi-generational registers and the biobanks of FinnGen, Wang, Liu, et al. investigated the effect of parental autoimmune diseases on offspring T1D. Their creative and r...

Type 1 diabetes (T1D) and other autoimmune diseases often co-occur in families. Leveraging data from 12.6K genotyped trios in @finngen.bsky.social, our work - online today in Cell Genomics - studied the transmission of parental autoimmune diseases on T1D in offspring.

www.cell.com/cell-genomic...

Final_Version_of_Tarrifs_actualFINALcopy_version7_USETHISONE.docx

White House says no one will be fired over the Signal scandal because no one involved was trying to cure cancer.

There are days in life that shake you.

I’m shattered 💔 to share that I just found out that the US Government terminated my 2024 NIH Director’s Early Independence Award (~$2 million), threatening my long-promised assistant professor job at Columbia University
& academic career... 1/🧵

Here’s Elon cutting pediatric brain cancer research 👇🏻

New preprint from the lab! 🚨

🧫 New galactose #CRISPR screening strategy
🎯 481 genes required for #OXPHOS
⚙️ #FAM136A in IMS proteostasis
👂Mito defects in #Menieres disease

by @marcellharhai.bsky.social @fbm-unil.bsky.social

A short thread 1/5

www.biorxiv.org/content/10.1...

Would love to be added if possible!

Honored to be on this list, I appreciate it!!

This is great!
I’m a final year MD/PhD student at Harvard. I did my PhD studying the common nuclear genetic influences on the mitochondria and mitochondrial DNA.
I’m excited about the use of molecular phenotypes with human genetics to understand basic disease mechanisms.