Browse Articles

CellSpectra identifies functionally relevant changes in cellular pathways when analyzing single samples in comparison to a reference atlas, here applied to rodent models and patient samples of kidney disease.

This Perspective proposes a human rights-based governance framework for cross-border genomic data sharing, addressing limitations of data sovereignty approaches while balancing privacy, security and global research collaboration.

Noncoding rare variant analyses using whole-genome sequencing data from the UK Biobank identify gene–trait associations for 42 blood cell traits but find that most signals are driven by linkage disequilibrium between common and rare variants.

CRISPR activation of 1,836 human transcription factors recapitulates fibroblast transcriptional states observed in vivo and identifies regulators that can revert inflammatory states.

Haplotype-resolved, gap-free genome assemblies for a representative Asian pear (Pyrus bretschneideri, ‘Dangshansuli’) and a European pear (Pyrus communis, ‘Max Red Bartlett’) provide insights into genome evolution and interspecies variation in Pyrus species.

Integration of snATAC-seq and snRNA-seq data from brains of individuals with major depressive disorder identifies chromatin accessibility alterations and functional enrichment of risk variants in deep-layer excitatory neurons. Gray matter microglia in these individuals show decreased accessibility at sites bound by regulators of immune homeostasis.

Rice sheath blight is a major fungal disease caused by the necrotrophic pathogen Rhizoctonia solani. We identified a natural SBRR1-R allele that is activated by the bHLH57 transcription factor, leading to increased expression of chitinase antifungal protein genes that confer resistance to sheath blight.

Multivariate genome-wide association analyses of the latent genetic architecture of frailty identify one general factor of genetic overlap across all frailty deficits and six factors indexing a shared genetic signal across specific groups of deficits.

Analysis of synteny blocks and genomic rearrangement patterns of 178 newly sequenced and 64 publicly available complete genomes of Yersinia pestis highlights the impact of key variations on genes involved in adaptation and virulence.

We show that alternative DNA structures, called G-quadruplexes, behave as elements of eukaryotic promoters. Our data suggest that they function to support intrinsic nucleosome exclusion and to facilitate transcriptional pause release by RNA polymerase II.

A genome-wide association study in rice identifies variation in SBRR1 associated with sheath blight resistance. Introducing the SBRR1-R allele into a commercial rice variety reduces yield loss under severe exposure to sheath blight disease.

De novo long-read genome assembly for nine legume species and pangenome analysis identify genomic variations associated with environmental adaptation and domestication and highlight the role of transposable elements in genome evolution.

Genome-wide analyses in over one million self-reported cases and controls identify genetic variants associated with stuttering and find genetic correlations with autism, depression and impaired musical rhythm, supporting a potential neurological basis for stuttering.

ESCAPE-seq (enhanced single-chain antigen presentation sequencing) is a massively parallel platform for screening of class I HLA–peptide combinations for antigen presentation. The authors assess more than 75,000 peptide–HLA combinations, revealing presented epitopes from oncogenic driver mutations and fusions across diverse HLA-A, HLA-B and HLA-C alleles.

This Perspective proposes a checklist of six database design considerations, LISTEN: licensed, identified, supervised, transparent, enforced and non-exclusive, aimed at ensuring access and benefit-sharing principles in open science.

A single-cell multiomic immune cell atlas from 235 Japanese, including patients with COVID-19 and healthy individuals, linked with host genetics including germline and somatic mutation, plasma proteomics and metagenomics data reveals that immune cells are dynamically regulated in a cell state-dependent manner.

Genome assemblies of two allotetraploid cotton germplasms, Jin668 and YZ1, reveal the regulatory mechanisms underlying somatic embryogenesis and plant regeneration, and provide potential for precise genome editing in cotton.