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Endometrial cancer is the most common invasive gynaecological cancer in developed countries. Here a meta-analysis identifies an additional nine novel endometrial cancer risk loci and eQTL analysis reveals risk variants associate with reduced expression of negative regulators of oncogenic signal transduction proteins.

How glutamine metabolism orchestrates macrophage activation is unclear. Ho and colleagues show glutamine metabolism tailors the immune responses of macrophages through metabolic and epigenetic reprogramming.

Prenatal immune suppression is regulated by fetal arginase-2-expressing dendritic cells which respond normally to toll-like receptor stimulation but, in contrast to adult dendritic cells, induce regulatory T cells and repress TNF-α secretion by effector T cells.

Levels of circulating thyrotropin and free thyroxine reflect thyroid function, however, their genetic underpinnings remain poorly understood. Taylor et al. take advantage of whole-genome sequence data from cohorts within the UK10K project to identify novel variants associated with these traits.

We introduce a major scientific endeavour called π-HuB (proteomic navigator of the human body), its aim being to generate and harness multimodality proteomic datasets to enhance our understanding of human biology.

Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

Population-based genome sequencing provides an increasingly rich resource for the identification of low-frequency, large effect variants associated with clinically important phenotypes. Timpson et al. use UK10K data to identify a variant of the APOC3gene strongly associated with plasma triglyceride levels.

CT-SLEB, a powerful and scalable method, improves the performance of multiancestry polygenic prediction by generating polygenic risk scores based on GWAS summary statistics in diverse populations.

In January 2024, a Hevolution Alliance for Aging Biomarkers thinktank convened at Cold Spring Harbor to discuss the framework for creating an open and diverse data resource for developing reliable aging biomarkers. As the funding for this initiative has now been confirmed, we summarize recommendations and key milestones for its implementation.

The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.

Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus, reduced eye size, muscle degeneration and α-dystroglycan hypoglycosylation.

Chaperomes are dynamic assemblies of proteins that regulate cellular homeostasis but specific cellular stresses remodel chaperome components into a stable chaperome network called the epichaperome, which might offer a new cancer target.

Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine common or low-frequency variants associated with these traits.

Three techniques for estimating mass losses from the Greenland Ice Sheet produce comparable results for the period 1992–2018 that approach the trajectory of the highest rates of sea-level rise projected by the IPCC.

Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

Theories of consciousness have a long and controversial history. One well-known proposal — integrated information theory — has recently been labeled as ‘pseudoscience’, which has caused a heated open debate. Here we discuss the case and argue that the theory is indeed unscientific because its core claims are untestable even in principle.

The two-dimensional semiconducting material molybdenum disulphide shows strong piezoelectricity in its single-layered form, suggesting possible applications in nanoscale electromechanical devices for sensing and energy harvesting.

Human lung and colorectal tumours contain a population of tumour-infiltrating lymphocytes that are specific for tumour-unrelated antigens and, unlike tumour-antigen-specific tumour-infiltrating lymphocytes, do not express CD39.

Molecular measures of biological ageing based on high-throughput omics technologies are enabling the quantitative characterization of ageing. The authors review how epigenomic, transcriptomic, proteomic, metabolomic and other omics data can be harnessed using machine learning to build ‘ageing clocks’.

Scientific research on consciousness is critical to multiple scientific, clinical, and ethical issues. The growth of the field could also be beneficial to several areas including neurology and mental health research. To achieve this goal, we need to set funding priorities carefully and address problems such as job creation and potential media misrepresentation.

After synthesis, all RNA molecules are subject to covalent modifications. This Review presents the evidence that RNA modification pathways are misregulated in cancer and suggests that they may be ideal targets for cancer therapy.

Dual-locked optical probes change their optical signals when they respond to two biomarkers of interest. This facilitates real-time imaging of multiple interrelated biomarkers in living systems and, thus, provides opportunities to better understand pathological events and enhanced diagnostic specificity.

In this Perspective, the authors illustrate the physics of hyperbolic polaritons in anisotropic 2D and 1D materials, proposing new potential material candidates, forward looking opportunities and technological applications.

Circulating β2-microglobulin, a component of MHC I, increases with age, promoting age-related cognitive decline and decreased neurogenesis.

Fertilizer-derived nitrogen with low isotopic nitrate and particular matter values is mainly exported to the Gulf of Mexico during wet season, according to an analysis combining hydrographic and nutrient data, and isotope samples.

Janey Wiggs, Jonathan Haines and colleagues identify three new susceptibility loci for primary open-angle glaucoma. The association signals map near genes implicated in ocular development (FOXC1), neurodegeneration (ATXN2) and mitochondrial function (TXNRD2).

Metabotropic glutamate receptors (downregulated in untreated schizophrenics) interact with the serotonin 2A receptor to form a functional complex in the brain; this complex triggers unique responses when activated by hallucinogenic drugs, and may represent a new target for the treatment of psychosis.

The Contaminant Repository for Affinity Purification (CRAPome) is a database of annotated negative control-data that can be used for filtering out nonspecific interactions in affinity purification-mass spectrometry experiments.

Jan et al. identify cholesteryl α-D- glucopyranoside acyltransferase as a key enzyme in Helicobacter pylori’s synthesis of cholesteryl 6’-O-acyl-α-D-glucopyranoside, which promotes bacterial adhesion. This study provides insights into the H. pylori-induced pathogenesis and therapeutic strategies against it.