I wrote about the National Institutes of Health and the various serious and unserious proposals for NIH reform that have been floating around. It is important to understand how this agency actually functions and point criticism at the right problems. A short 🧵:

Excited to share our recent work: expansions and contractions of DNA repeats have produced many genetic polymorphisms. We studied repeat instability among >700,000 biobank participants using new computational approaches to analyze DNA sequencing data. biorxiv.org/content/10.110…

Super excited to release this new preprint: Jeff and Hakhamanesh drill into key questions about GWAS and rare variant studies: What SNPs and genes do these discover and why? We introduce a concept called SPECIFICITY, which we show is a fundamental determinant of GWAS/RV studies

Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. medrxiv.org/content/10.110…

The university will not surrender its independence or relinquish its constitutional rights. Neither Harvard nor any other private university can allow itself to be taken over by the federal government. hrvd.me/ResearchFundin…

Congrats Ajay Nadig on TRADE out now in Nature Genetics: nature.com/articles/s4158… These statistical metrics enable more meaningful comparisons in Perturb-seq atlases. Also, now find the HepG2 and Jurkat Perturb-seq datasets on GEO GSE264667!

Excited to share that Ajay's paper is now out Nature Genetics : Transcriptome-wide analysis of differential expression in perturbation atlases rdcu.be/eiyI3

excited to share our new preprint looking at mosaic chromosomal alterations in blood whole genome sequencing data! i learned tons working on this project, and i hope our findings are of interest to those thinking about CH, somatic mosaicism, and genetics. medrxiv.org/content/10.110…