Jonathan Pritchard
@jkpritch
My lab at Stanford studies human population genetics and complex traits.
I'm delighted to release the first half of my new open-access online textbook in human population genetics: web.stanford.edu/group/pritchar…
Our paper, many years in the making, is out today! We use high dimensional imaging phenotypes to interpret the effects of genome-wide perturbations, & find some cool biology
Out today from the Neal lab! An optical pooled cell profiling platform (PERISCOPE) based on Cell Painting and optical sequencing of molecular barcodes was used to develop the first unbiased genome-wide morphology-based perturbation atlas in human cells. nature.com/articles/s4159…
New approach to discovering the biology of GWAS signals “by combining quantitative estimates of gene-trait relationships from loss-of-function burden tests with gene-regulatory connections inferred from Perturb-seq experiments in relevant cell types.”
Modern GWAS can identify 1000s of hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm excited to present our new work combining associations + Perturb-seq to build interpretable causal graphs! A🧵
Thank you Jonathan for the elegant explanation of our recent work! We dove into how we can model the gene regulatory architecture of complex traits with 1) gene effects from LoF burden tests and 2) Perturb-seq. It’s been an incredibly exciting and thought-provoking journey!
Modern GWAS can identify 1000s of hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm excited to present our new work combining associations + Perturb-seq to build interpretable causal graphs! A🧵