Research articles

Genome-wide CRISPRi screens for modulators of androgen receptor (AR) protein levels using live-cell quantitative endogenous AR fluorescence reporters identify PTGES3 as a new regulator of AR stability and function in prostate cancer.

This study nominates immune escape as an early event in colorectal cancer and shows how this can be driven through both genetic and epigenetic changes.

Multi-ancestry genome-wide association meta-analyses of polycystic ovary syndrome in women of East Asian and European ancestries identify 94 independent susceptibility regions, including 73 novel loci.

Genome-wide analyses of 10 educational fields identify 17 associated loci. Analysis of genetic clustering across specializations identifies two key dimensions that show genetic overlap with personality traits, behavioral traits and socioeconomic status.

Liability threshold phenotypic integration combines genetic relatedness with phenotypic information to derive new continuous phenotypes for a target disease, improving genome-wide association study power and disease risk prediction accuracy.

Analysis of 14,106 tumor genomes highlights recurrent mutations in mitochondrial ribosomal RNA encoded within the mitochondrial genome. Mutations occur at hotspot positions and are under strong purifying selection in the germline.

A multiomics dataset including genomics, transcriptomics and metabolomic variations across 403 upland cotton accessions identifies MYB genes regulating key metabolites and agronomic traits during cotton ovule and fiber development.

Genome-wide analysis in individuals of African ancestry identifies a nonsense variant in CD36 associated with increased risk of dilated cardiomyopathy (DCM), partly accounting for the higher incidence of DCM in African-ancestry populations.

Pancreatic cancer progression is driven by a switch from HNF4G-driven transcriptional activity in primary disease to FOXA1-mediated transcription in the metastatic setting.

CRISPR-based epigenetic editing is used in a cell-type-specific, locus-restricted and temporally controllable manner in the adult mouse brain to modulate memory expression.

The authors use spatial and single-cell transcriptomics to examine spatial dynamics during early human cardiogenesis, yielding insights into the development of the cardiac pacemaker-conduction system, autonomic innervation, heart valves and atrial septum, and heterogeneity of cardiac mesenchymal cells.

A natural variant of RCN2 enhances nitrogen assimilation and grain yield in rice by restricting chromatin loop extrusion and competitive interaction with the OsSPL14–SLR1 regulatory module.

Real-time PRS-CS (rtPRS-CS) is a polygenic prediction method that can incorporate streaming data for updating single-nucleotide polymorphism weights in real time, thereby maximizing the prediction accuracy of polygenic risk scores over time across various traits.

This study presents 25 new maize genome assemblies and integrates them with 31 publicly available maize genomes to conduct a pangenome analysis that provides genetic insights into drought resistance.

Integrated clinical and single-cell analysis of primary pancreatic tumor samples that later recur in the liver or lung shows that tumor cells at the primary site transcriptionally resemble the normal parenchymal epithelia of the liver or lung, respectively.

OTX2 binds to and activates genes involved in embryonic genome activation, including TPRX1 and TPRX2. OTX2 knockdown impairs embryonic genome activation and early development, which can be partially rescued by overexpression of TPRX1 and TPRX2.

Pathogenic variants in UNC13A underlie a novel neurodevelopmental syndrome, with three subtypes defined by distinct genotypes with varying clinical and functional impacts characterized in cellular and animal models.

Telomere-to-telomere assemblies of two mouse inbred strains, C57BL/6J and CAST/EiJ, offer improvements over the current mouse reference genome by adding telomere and centromere sequences that lead to insights into variability in telomere and centromere sizes and organization, and the discovery of 225 and 355 new genes for C57BL/6J and CAST/EiJ, respectively.

Comparative analyses of rice centromeres from 70 high-quality genomes of the Oryza AA group provide insights into rice centromere evolution and genetic factors that shape these genomic regions.

Analysis of the immune microenvironment of diffuse B cell lymphomas using spatial transcriptomics, proteomics and genomics highlights discrete cellular niches with divergent patterns of cell–cell communication that contribute to the phenotypic heterogeneity of both tumor and immune cells.