De novo formation of cis-regulatory contacts in the absence of NIPBL-driven chromatin loop extrusion
Vermunt, M. W., Zhang, D. & Blobel, G. A. The interdependence of gene-regulatory elements and the 3D genome.…
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…
Three-dimensional genome reorganization foreshadows zygotic genome activation in Drosophila
Drosophila stock maintenance PCNA::EGFP flies used for interphase-staged Pico-C were generously provided by S. A. Blythe and E.…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
To identify genes associated with either adult BMI or T2D risk, we performed association testing using WGS data…
A genetic map of human metabolism across the allele frequency spectrum
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
Spatial architecture of development and disease
Bressan, D., Battistoni, G. & Hannon, G. J. The dawn of spatial omics. Science 381, eabq4964 (2023). Article …
Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Bryophytes hold a larger gene family space than vascular plants
Kenrick, P. & Crane, P. R. The origin and early evolution of plants on land. Nature 389, 33–39…
Single-nucleus chromatin accessibility profiling identifies cell types and functional variants contributing to major depression
James, S. L. et al. Global, regional, and national incidence, prevalence, and years lived with disability for 354…