There are much more structural variants within our genomes than previously conceived, >26,000 per person nature.com/articles/s4158… nature.com/articles/s4158…

Online now: Human brain vascular multi-omics elucidates disease-risk associations dlvr.it/TM8xPH

Single-cell multiomics reveals the oscillatory dynamics of mRNA metabolism and chromatin accessibility during the cell cycle dlvr.it/TMFRm2

Now online! Single-cell multiregion epigenomic rewiring in Alzheimer’s disease progression and cognitive resilience dlvr.it/TMFTDz

New risk genes for schizophrenia (STAG1 and ZNF136 plus 6 suggestive genes) based on a new exome-wide association study involving 4650 cases and 5719 controls combined with previously published results, totalling to 28,898 cases, 103,041 controls and 3444 proband-parent trios.

To all of the folk saying we need deep learning for RNA-seq prediction...

Our paper is now out in final form at Nature Genetics! For those who missed the preprint, we used large-scale Perturb-seq targeting transcription factors to push primary fibroblasts into diverse transcriptional states, including those observed in cell atlas studies.

New nature The possibility that lithium deficiency is a driver of Alzheimer's disease. Experimental model shows Li depletion impedes amyloid clearance, and repletion in humans could be achieved with low doses nature.com/articles/s4158…

🚨 Our parent-of-origin study is out in nature ! 🧬 Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss. 🔗nature.com/articles/s4158… Highlights below!

Single Cell Multiomics Across Nine Mammals Reveals Cell Type Specific Regulatory Conservation in the Brain biorxiv.org/content/10.110… #biorxiv_genomic

Ever wonder how the genome of human brains compares with macaque, marmoset, mouse, rat, cat, rabbit, horse, and cow? Wonder no longer! Check out a really cool pre-print from my very talented graduate student Ashlyn Anderson on multiomics across mammals: biorxiv.org/content/10.110…

Excited to share our latest preprint. biorxiv.org/content/10.110…. Lead by Lukas, we investigated multiple ways of assessing a TF's sensitivity to chromatin based on genome-wide binding profiles. The developed methods allowed us to quantify chromatin sensitivity across tested TFs.

A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias. #RhesusMacaque #ReferenceGenome #T2T #Genomics bioRxiv Genomics biorxiv.org/content/10.110…

brilliant work from ⁦Johan Jakobsson⁩ biorxiv.org/content/10.110…

We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. biorxiv.org/content/10.110… (1/n)

This is truly an incredible breakthrough IMO. Really exemplifies what you get when deep domain expertise (population/disease genetics in this case) fuses with cleverly crafted ML. What u get r sleek, well thought out architectures that absolutely destroy the behemoths. Wow!! 1/

Nature research paper: CRISPR activation for SCN2A-related neurodevelopmental disorders go.nature.com/4mrehDd

Huntington’s disease is brutal. A single DNA error → toxic protein → dead brain cells. No cure. Always fatal. Always inherited. But now? Science has flipped the script. How the new gene therapy works: 1️⃣ Huntington’s mutation makes a toxic protein that kills neurons. 2️⃣

Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the oral somatic mutation landscape in >1000 people. nature.com/articles/s4158…

New preprint showing human brain organoids from our library of patient #IPSCs modeling neurodevelopmental disorders. Four major clinical classes of NDDs (MIC, EPI, PMG, ID) showed distinct scRNAseq and organoid phenotypes. doi.org/10.1101/2025.0…