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Yücel et al. examine how skin and hair characteristics impact functional near-infrared spectroscopy (fNIRS) signal quality and provide recommendations for inclusive use of fNIRS.

A DNA walker moving along a DNA track can perform the multistep synthesis of an oligoamide in a single solution without any external intervention.

Understanding collective behaviour is an important aspect of managing the pandemic response. Here the authors show in a large global study that participants that reported identifying more strongly with their nation reported greater engagement in public health behaviours and support for public health policies in the context of the pandemic.

Here the authors develop a genetic priority score to predict side effects by integrating multiple lines of genetic evidence. By applying this score, they provide evidence of known side effects and suggest ones with no clinical trial evidence.

Kevin Campbell and colleagues identify mutations in ISPD as a cause of Walker-Warburg syndrome (WWS) using a complementation assay in fibroblasts derived from affected individuals and targeted sequencing. They find that loss-of-function mutations in ISPD disrupt dystroglycan O-mannosylation, suggesting a new disease mechanism.

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.

Nimbus, a deep learning model, uses a large multiplexed imaging dataset to predict the likelihood of marker positivity in single cells.

Although molecular motors that ‘walk’ along tracks are common in biological systems, the only artificial analogues reported so far have been made from DNA. It has now been shown, however, that a synthetic small molecule with two ‘feet’ can take steps along a molecular track, and that the direction of movement can be biased under certain conditions.

An Atlantic meridional overturning circulation slowdown drives widespread shifts in tropical rainfall through the propagation of high-latitude cooling into the tropical North Atlantic.

Analysis of ground-sourced and satellite-derived models reveals a global forest carbon potential of 226 Gt outside agricultural and urban lands, with a difference of only 12% across these modelling approaches.

African ancestry is a known risk factor for prostate cancer development, but the genetic determinants of this are incompletely understood. Here, the authors identify 172 potentially pathogenic variants which are enriched in an African population.

The authors report a meta-analysis of methylome-wide association studies, identifying 15 significant CpG sites linked to major depression, revealing associations with inflammatory markers and suggesting potential causal relationships through Mendelian randomization analysis.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Integrated multi-omic analyses using samples from the TRACERx study highlight cross-talk between DNA hypermethylation and genomic lesions in non-small cell lung cancer.

Afshar, Dammer et al. identify plasma proteins associated with Alzheimer’s disease brain pathologies and find that many plasma proteins related to cognitive function are not associated with these pathologies.

Antibiotic resistance poses a critical global health threat. Here, the authors identify a carbapenem resistant clone of uropathogenic Escherichia coli with atypical virulence features as an increasing cause of urinary tract infection

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

The AAA-ATPase Drg1 is a key factor in eukaryotic ribosome biogenesis that initiates cytoplasmic maturation of the large subunit. Here the authors report the structure of Drg1 in complex with its specific inhibitor diazaborine and provide insight into the mechanism of inhibition and specificity of this class of inhibitors.

Early Eocene ENSO had stronger amplitude and longer periodicity than present, driven primarily by tectonic changes, but high atmospheric CO₂ levels offset tectonic influence on the ENSO amplitude through altered ocean-atmospheric interaction.

Heo, Xu et al. used comprehensive plasma proteomics to identify 416 plasma proteins (294 new) associated with Alzheimer’s disease and applied machine learning to select 7 proteins that were highly predictive of Alzheimer’s disease across multiple cohorts.

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal genes, ARID3A and NR6A1, along with 38 candidate genes, providing evidence for shared genetics with other developmental disorders.

The West African–South American lineage of Vibrio cholerae contains multiple distinct anti-phage defence systems that provide resistance to various phage families, including vibriophage ICP1, a key predator of pandemic strains.

Flores et al. show that brain-penetrant eIF2B agonists suppress ISR activation in cellular and mouse models of ALS and reduce ISR biomarkers in humans, enabling further clinical studies of ISR inhibition in individuals with neurological diseases

Using a large cosmological sample of FRBs, Connor et al. have located many of the Universe’s unseen baryons, finding that most reside in the diffuse intergalactic medium, not galaxies—confirming the strong astrophysical feedback seen in simulations.

Circulating tumor DNA (ctDNA) allows genotyping of the tumor in multiple myeloma. Here, the authors show that minimal residual disease (MRD) by ctDNA can be detected after CAR-T therapy correlates with bone marrow-based MRD to track clonal evolution and inform treatment resistance mechanisms.

Genome-wide analyses identify 30 independent loci associated with obsessive–compulsive disorder, highlighting genetic overlap with other psychiatric disorders and implicating putative effector genes and cell types contributing to its etiology.

The 26S proteasome contains a hexamer of ATPase subunits, which binds, unfolds and translocates substrates in an ATP-dependent manner. Kim et al. use FRET to show that ATP binding preferentially occurs at neighbouring subunits of the hexamer, and identify two allosteric systems that coordinate translocation.

There are currently no licensed vaccines to prevent Group A Streptococcus (GAS) infections. In this study, the authors evaluate the immune response and preclinical efficacy of a multicomponent mRNA lipid-nanoparticle vaccine against GAS.

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

The authors generate ~1-km² growth curves for aboveground live carbon in regrowing forests, globally. They show that maximum carbon removal rates can vary by 200-fold spatially and with age, with the greatest rates estimated at about 30 ± 12 years, highlighting the role of secondary forests in carbon cycling.

With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.

Staphylococcus aureus adapts to diverse host environments during infection. Here, the authors use transposon sequencing to reveal niche-specific genes and identify 27 core genes required for S. aureus fitness across intracellular, blood, and organ niches.