A must read for anyone who cares about eukaryotic genomes
+1 to perhaps not utopian relabeling the world, but gently moving to directly describing the mutation impact in biophysical terms as destabilizing, aggregation-inducing, interface-destroying, etc.; and the higher level phenotypes as a function of these protein qualities, not of mutations!
"In this study, we present a genome-scale map of genetic interactions in the human haploid cell line HAP1, based on CRISPR-based perturbation of ∼4 million gene pairs. The resulting network comprises ∼89,000 high-confidence gene-gene interactions"
doi.org/10.1016/j.ce...
Genetic analysis of circulating metabolic traits in 619,372 individuals @nature.com @kauralasoo.bsky.social @unitartupress.bsky.social www.nature.com/articles/s41...
Leopold Parts
Leopold Parts
1\ Excited to finally share some of my PhD work: OpenSplice!
We measured how >590,000 mutations affect exon inclusion across 600 human exons, creating a resource to study splicing regulation, benchmark variant effect predictors, and support variant interpretation.
Alejandro Montenegro
Indeed..
here is "generate the first page of a great Nature paper that will get lots of citations. It must be very novel."
Postdoctoral job announcement: come to Cambridge and work on population genetic modelling with environmental and ancient DNA, jointly with @gamzeandgursoy.bsky.social and me. Details at www.jobs.cam.ac.uk/job/55580/ - applications by June 16th.
Research Associate in Population Genetics Modelling and Environmental DNA (Fixed Term) in the Department of Applied Mathematics and Theoretical Physics at the University of Cambridge.
We Are on the Cusp of a Revolution in Rare Disease Treatment
www.nytimes.com/2026/04/09/o...
22/n On a personal note, I’ll soon start an independent research group in the Genome Biology Unit at EMBL Heidelberg. If you enjoy this type of work and want to engineer genomes at the largest scale, please reach out!
jonas-koeppel.github.io/koeppellab/
www.embl.org/groups/koepp...
⚠️ new preprint: Chromatin accessibility of primary cancers informs regional mutagenesis in metastases through multi-scale deep learning. led by @hanlijiang13.bsky.social @moleculargenetics.bsky.social @oicr.on.ca www.biorxiv.org/content/10.6... [1/3]
I wrote an essay. It’s about gain-of-function mutations. And penguins. Also ion channels, chihuahuas, the film Alien, recycled cardboard, and the Apollonian mind. Oh, and muffins.
Thanks to the editors of #GENETICS @genetics-gsa.bsky.social for letting me take some stylistic liberties. 1/2
