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Vitamin D insufficiency is endemic amongst renal transplant recipients, as it is in other individuals with chronic diseases, both within and beyond nephrology. Few data exist to guide vitamin D replacement strategies, but indirect evidence points to likely skeletal, and possibly extraskeletal, benefits from supplementation.

The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.

By assembling the genomes of 22 Fraxinus species and conducting comparisons including further species, the authors identify candidate loci for emerald ash borer resistance that have evolved convergently.

In this Review, Shao et al. discuss experimental and computational advances in single-cell DNA sequencing, insights into somatic genetic variation during normal development and in disease, and the potential use of single-cell somatic mutations for lineage tracing, diagnostics and biomarkers.

Controlled generation of terahertz radiation with subluminal phase velocities is a key issue in laser-driven particle acceleration. Here, the authors demonstrate a travelling-source approach utilizing the group-to-phase front conversion to overcome the sub-luminal propagation limit.

Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between germline mutations and PZMs. Spatiotemporal analyses of the PZMs also revealed the association of the amygdala with ASD and implicated risk genes, including recurrent potential gain-of-function mutations in SMARCA4.

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Fires triggered by climate change threaten plant diversity in many biomes. Here the authors investigate how the catastrophic fires of 2019–2020 affected the vascular flora of SE Australia. They report that 816 species were highly impacted, including taxa of biogeographic and conservation interest.

A comprehensive analysis of brain somatic mosaicism across the neocortex demonstrates the origins and distribution patterns of cells within the human brain.

Analyses of data from more than 200,000 individuals identify phenotypic features associated to carrying variants in autism-associated genes, in individuals with and without a diagnosis of autism.

Bacterially produced bile acids inhibit T_H17 cell function, which may be relevant to the pathophysiology of inflammatory disorders such as inflammatory bowel disease.

A deep learning model detects low frequency mosaic variants with improved accuracy.

Solid state Pt(II)-pincer complexes exhibiting vapochromic responses show promise for chemical sensing applications, but their slow responses typically limit their utility. Here, Raithby and colleagues design a Pt(II)-pincer complex with a subsecond, highly-selective vapochromic response to water and methanol.

Off-target binding hinders the development of therapeutic antibodies and reproducibility in basic research settings. Here the authors develop a method to quantify and reduce the polyreactivity of antibody fragments based on protein sequence alone.

William Isaacs and colleagues report evidence for a second prostate cancer risk locus in the HNF1B gene at 17q12, ∼26 kb from the previously reported risk locus in this region. The two loci are separated by a recombination hot spot and contribute independently to prostate cancer risk.

Observations of the stellar dynamics of the compact lenticular galaxy NGC 1277 show that its central black hole accounts for more than half of the mass of the host galaxy’s bulge, indicating that lenticular galaxies do not follow the usual black-hole mass scaling relations.

The contribution of solar-wind ions exchanging electrons with helium and hydrogen near the Sun is shown to be only about 40 per cent of the 1/4-keV X-ray flux observed in the Galactic plane; this supports the existence of a local ‘hot bubble’ filled with X-ray-emitting gas, accounting for the rest of the flux.

Accurate classification of genetic variants is critical for research and patient care. Here, the authors report that population-based associations between rare variants and quantitative endophenotypes for monogenic diseases can provide support for variant pathogenicity.

The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

Recent evidence has questioned the dogma of strict maternal transmission of mitochondrial DNA (mtDNA) in humans. Wei et al. saw no evidence of paternal transmission of mtDNA in 11,035 human trios, and show that nuclear-mitochondrial segments (NUMTs) can give the impression of paternal mtDNA transmission, but are actually inherited through the nuclear genome.

The emergence of Gram-negative pathogens resistant to carbapenem antibiotics is a global health concern and carbapenem resistance often arises through acquisition of β-lactamase enzymes; this study identifies the natural fungal product aspergillomarasmine A as a metallo-β-lactamase inhibitor and a potential treatment to tackle carbapenem resistance.

A new survey shows scientists consider the proliferation of intellectual property protection to have a strongly negative effect on research.

Evan Eichler and colleagues identify a recurrent microdeletion on 16p12.1 associated with developmental, cognitive and neuropsychiatric phenotypes. They also show that more severe phenotypes are frequently correlated with the presence of a second large genomic rearrangement, supporting a complex model of pathogenesis that may underlie the variable expressivity typical of many microdeletion syndromes.

Comprehensive factor analysis of core diagnostic features provides insights into the complex genetic architecture underlying phenotypic heterogeneity in autism.

Comparison of model simulations with atmospheric observations from the Southern Hemisphere mid-latitudes following the 2020 Australian wildfires shows that the wildfire aerosol composition promotes stratospheric chlorine and ozone depletion chemistry.

Nanoscale emitters are useful for measuring biomolecular interactions, but are limited by weak signals. Here, the authors use a photonic crystal surface for 3000-fold signal enhancement, achieving single emitter sensitivity with extended on-time, and demonstrate its application in miRNA biomarker sensing.

During the final stages of yeast ribosome synthesis, immature translation-incompetent pre-40S particles that contain 20S pre-rRNA are converted to the mature translation-competent subunits containing 18S rRNA. In vitro and in vivo data now demonstrate that processing of 20S pre-rRNA is stimulated by translation initiation factor Fun12, and that its interaction with 60S ribosomal subunits is required for efficient 20S pre-rRNA processing.

Lineage analyses of multicellular organisms provide key insights into developmental mechanisms and how these developmental trajectories go awry in diverse diseases. This Review discusses the features, technical challenges and latest opportunities of an evolving range of sophisticated genetic techniques for tracking cell lineages in organisms. These strategies include methods for prospective tracking using engineered genetic constructs, as well as retrospective tracking based on naturally occurring somatic mutations.

A convincing explanation of why mixed phases of anatase and rutile TiO₂ outperform individual polymorphs is lacking. An energetic band alignment of ~0.4 eV is now shown to exist between the two phases with anatase possessing the higher electron affinity. This observation explains the separation of photoexcited charge carriers between phases and could lead to improved photocatalysts.

Although protecting photoanodes using metal oxides is attractive for solar fuel applications, the photoanodes typically suffer from poor photovoltage. Now, insulating oxide layers are shown to promote enhanced photovoltages and general design principles are suggested.

Schizophrenia is a highly heritable genetic disorder, however, identification of specific genetic risk variants has proven difficult because of its complex polygenic nature—a large multi-stage genome-wide association study identifies 128 independent associations in over 100 loci (83 of which are new); key findings include identification of genes involved in glutamergic neurotransmission and support for a link between the immune system and schizophrenia.

Simon Gayther and colleagues report 3 new risk variants for mucinous ovarian carcinoma (MOC) on the basis of an analysis of 1,644 MOC cases and 21,693 controls. They confirm an eQTL association between the HOXD9 promoter and risk SNPs at 2q31.1 using chromosome conformation capture analysis and show that HOXD9 overexpression associates with neoplastic transformation.

The detection of methanol—a molecule that primarily forms on the cold, icy surfaces of dust grains—in a warm protoplanetary disk is an indication that complex organic molecules are inherited from the interstellar medium and transported intact to planet-forming regions.

Photoemission electron microscopy images of trap states in halide peroskites, spatially correlated with their structural and compositional factors, may help in managing power losses in optoelectronic applications.