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A genome-wide association study of age at onset of walking in over 70,000 infants found 11 significant loci. Age at onset of walking showed SNP heritability of 24%, a reliable polygenic score and genetic overlap with ADHD and brain phenotypes.

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.

Exome sequencing within a structured diagnostic process for rare diseases in Germany shows how facial image analysis and machine learning can guide variant prioritization and uncover many ultrarare diseases.

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

A genomic study of 125 individuals from the Carpathian Basin (4800–3900 BCE) reveals different kinship systems in nearby Copper Age communities, and highlights both genetic continuity and contrasting patterns of social organization.

Pompe disease (PD) is a rare disorder that leads to progressive muscle weakness if left untreated. Here, the authors use multispectral optoacoustic tomography (MSOT) to map and quantify the composition of affected muscle tissue to determine disease severity and potentially monitor future therapies.

The ratio between the levels of two synaptic proteins in cerebrospinal fluid predicts future cognitive resilience versus decline among presymptomatic individuals and individuals with early Alzheimer’s disease harboring amyloid and tau pathology.

The difference between children and adults in response to SARS-CoV-2 infection is not clearly established. Here the authors use gene expression analysis of nasopharyngeal samples from children and adults and show a higher level of immune response in children compared to adults, including of B and T cell activation.

The mechanisms regulating multipotency in glandular epithelia remain unclear. Here, the authors identify the key role of collagen signaling and ECM stiffness in regulating stem cell multipotency in glandular epithelia.

Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

Rates of protoplanetary accretion and differentiation control the depletion of nitrogen in rocky planets, according to high-pressure/temperature experiments that show that nitrogen is extremely siderophilic.

A study reporting the results of a clinical trial co-administering the GDF-15-blocking antibody visugromab with the anti-PD-1 antibody nivolumab demonstrates that neutralizing GDF-15 can overcome resistance to immune checkpoint inhibition in cancer.

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

Here, the authors characterize over 100 community samples and over 100 individual strains isolated from historical and modern traditional Swiss cheese starter cultures, showing imprints of millennia-long human domestication, notably stable phenotypic traits, low species and genomic diversity and genomic decay associated with reduction of niche breadth.

The spatial architecture of multiple myeloma remains to be explored. Here, the authors perform bulk and single cell sequencing for samples from newly diagnosed patients and reveal gene signatures associated with focal lesions and spatial heterogeneity in the tumour microenvironment.

Here, by performing tracheal aspirate RNA sequencing of critically ill patients, the authors find that older age associates with a greater number of detectably expressed antimicrobial resistance genes in the lower respiratory tract microbiome.

The GABAergic and peptidergic neuron RIS mediates sleep in Caenorhabditis elegans. The authors demonstrated here that RIS also functions as a locomotion stop neuron. Its optogenetic stimulation caused acute and persistent inhibition of locomotion, and brief intrinsic RIS activity preceded slowing.

Which contralesional circuits adapt after traumatic brain injury (TBI) is unclear. Here the authors used in vivo imaging, retrograde labeling, rabies tracing, clearing and functional imaging to demonstrate that callosal neurons selectively adapt after TBI in mice.

Determining progress in adaptation to climate change is challenging, yet critical as climate change impacts increase. A stocktake of the scientific literature on implemented adaptation now shows that adaptation is mostly fragmented and incremental, with evidence lacking for its impact on reducing risk.

The bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

A new study from the WHO African Region identifies features of countries that predict timing of the first case and the per capita mortality rate for the first and second waves of the COVID-19 epidemics.

2D materials host various collective excitations, which either mutate or cease to exist in the bulk. In this Review, we select the most striking properties of 2D plasmons, excitons, phonons and magnons, contrasting them with the bulk versions.

The 2-oxoglutarate dehydrogenase complex (ODH) is a textbook example of multienzymatic machinery. Here, the authors report the structural and regulatory properties of the Actinobacterial enzyme OdhA, a fusion of two ODH components acting in a supercomplex with pyruvate dehydrogenase.

A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

The cryo-electron microscopy structure of the 16-subunit yeast SWI/SNF complex RSC in complex with a nucleosome substrate provides insights into the chromatin-remodelling function of this family of protein complexes.

Female naked mole rats are long lived and show little or no decline in fertility over their lifespan. Here Brieño-Enríquez et al., demonstrate that naked mole-rats establish an exceptionally large ovarian reserve and undergo postnatal oogenesis.

Analysis of time-series abundance trends from more than a thousand local populations across Europe reveals a consistent impact of temperature on terrestrial communities, but variable impacts on freshwater and marine realms.

Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

Constructing genome graphs directly from genome assemblies overcomes single-reference bias.

Berkane et al. investigated the activation process of selective autophagy of the ER. They show that that phosphorylation of FAM134 proteins by CK2 is a prerequisite for the formation of large micro-clusters of high-density at the ER membrane.

Here, the authors perform transcriptional profiling on tracheal aspirates of adults requiring mechanical ventilation for SARS-CoV2-induced acute respiratory distress syndrome (ARDS) and identify a dysregulated host response predicted to predicted to be potentially modulated by dexamethasone.

The molecular mechanisms involved in the development of SMARCB1-deficient renal medullary carcinomas (RMCs) remain to be characterised. Here, the authors integrated RMC omics data to show that ferroptosis resistance contributes to transformation of renal thick ascending limb cells into several RMC cell states.

Imaging of muscle fibrosis with a handheld device could potentially serve as a biomarker for disease progression and response to therapy in patients with Duchenne muscular dystrophy.

Cachexia manifests in cancer, chronic inflammation and infections. Bergthaler and colleagues show that CD8⁺ T cells mediate infection-associated cachexia in a manner dependent on T cell–intrinsic type I IFN signaling and antigen recognition.

Research on microbes that inhabit the Earth's subsurface is mostly based on metagenomic information only. Here, Probst et al. combine metagenomics with ultrastructural and functional analyses to study the biology of a group of uncultivated subsurface archaea, the SM1 Euryarchaeon lineage.

Integration of GWAS and single-cell transcriptomic data from the entire nervous system systematically identifies cell types underlying brain complex traits and provides insights into the etiology of Parkinson’s disease.

Maes et al. use second-order conditioning, blocking and optogenetic inhibition to show that cue-evoked dopamine transients function as temporal-difference prediction errors rather than reward predictions.

Modelling and radar data from Amundsen Sea suggest current melting will run away.

Contrary to the view that urbanization is a major driver of the global rise in obesity, the global increase in body-mass index is shown to be mostly due to increases in the body-mass indexes of rural populations.