Very cool paper from Vamsi Mootha @bmneale & Rahul Gupta! Variation in mtCN and heteroplasmy is controlled in large part by the genetic variation in the nuclear genome. Leveraging AllofUsResearch and UK Biobank sequencing data.

Health care is making Americans poorer. In NEJM, we describe the current burden of medical debt, the history of our health financing system, and solutions to endemic medical debt in the US. nej.md/3P1X2tc 1/10

I'm delighted to release the first half of my new open-access online textbook in human population genetics: web.stanford.edu/group/pritchar…

12 tips for surviving and thriving in PhD-land! 🏔️ Thanks for the feature Behind the Microscope Podcast Carey Jansen, MD PhD (& obsessed with the artwork Sarah Hunter-Chang)!

Thrilled to share I’m opening my lab Yale Department of Genetics in 2024! Excited to join the faculty of this amazing department. We’ll study human genetic variation in health & disease focusing on mitochondrial genomics I’m #hiring, reach out if interested! #ASHG2023 thelakelab.org

We are excited to share Genotype-Neighborhood Associations, GeNA, a new tool adapting our CNA framework to detect cell states associated in abundance with genetic variants at genome-wide scale in high-dimensional single-cell data w/ Soumya Raychaudhuri সৌম্য রায়চৌধুরী doi.org/10.1101/2023.1… 🧵

Excited that our single-cell eQTL study of HLA genes is out now in Nature Genetics! ⭐️ nature.com/articles/s4158… Huge thx to Soumya Raychaudhuri সৌম্য রায়চৌধুরী Saori Sakaue Yang Luo for their guidance Check out this great News & Views by the Gaffney lab describing the key points: nature.com/articles/s4158…

One of the most comprehensive and definitive pieces of work I’ve ever seen from one of the most intelligent scientists I have ever met. Huge, huge congratulations on this tremendous effort!!

4 years ago, we ran 16,554 GWASes for 7,271 traits across 6 ancestry groups and released the data to the public along with meta-analysis. After many careful dives through the results, we are happy to present these analyses on behalf of the Pan-UKB Project: medrxiv.org/content/10.110…

Continuing our study of the somatic segregation of pathogenic mitochondrial DNA variants. T cell activation selects against the m.3243A>G variant in a manner that persists with time/age. Vamsi Mootha Broad Institute MGH Neurology Dept. of Molecular Biology, MGH pubmed.ncbi.nlm.nih.gov/38499449/

Introducing a resource of mtDNA copy number (mtCN) across ~10k human donor-tissues (GTEx), 20 murine tissues, and 173 cancer cell lines. Insights emerge by integrating mtCN w/other large-scale measures, e.g., DepMap cells w/high mtCN resist loss of GPX4. pnas.org/doi/10.1073/pn…

Some exciting news — I’ll be joining Y Combinator as a visiting partner for the Winter 2025 batch! Excited to be back in the YC community, working with the next generation of startups. 1/ ( 🧵)

Very cool work by Rahul Gupta NealeLab /labneale.bsky.social Vamsi Mootha, and delighted to contribute. Super cool new connections between mtDNA mutational burden in blood & clonal hematopoiesis 👇