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.…
SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology
Model residuals of linear regression and logistic regression Linear regression and logistic regression are regular models to fit…
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
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 novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology
K-proportion and gene homeostasis Z-Index identify regulatory genes As cells of the same type and in the same…
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…
Incorporating additive genetic effects and linkage disequilibrium information to discover gene-environment interactions using BV-LDER-GE | Genome Biology
Model overview We consider the following model to incorporate both additive and interaction effects: $${Y}_{i}={\sum }_{j=1}^{M}{G}_{ji}{\beta }_{j}+{\sum }_{j=1}^{M}{S}_{ji}{\gamma…