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Mammalian genomes are scattered with repetitive sequences, but their biology remains largely elusive. Here, the authors show that transcription can initiate from short tandem repetitive sequences, and that genetic variants linked to human diseases are preferentially found at repeats with high transcription initiation level.

Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.

Analysis of colorectal cancer bulk gene expression data at the pathway level identifies a poor-prognosis subtype associated with cell differentiation. The subtypes are reproducible in single-cell data and offer biological insights beyond existing stratification strategies.

A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

Inborn errors of the alternative NF-κB pathway in humans impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases

The cause of the end-Cretaceous mass extinction is still debated due to difficulties separating the influences of two closely-timed potential causal events (massive volcanism and meteorite impact). Here, the authors link the extinction to both kill mechanisms through a new paleotemperature record.

Longitudinal population-based surveillance identifies shifts in HIV transmission patterns related to age and sex, suggesting that HIV programmes to increase HIV suppression in men are crucial to reduce incidence in women.

Multi-ancestry meta-analyses of genome-wide association studies for self-reported physical activity during leisure time, leisure screen time, sedentary commuting and sedentary behavior at work identify 99 loci associated with at least one of these traits.

Two monolayers of bismuth-containing cuprate will form a high-temperature topological superconductor when stacked with an approximately 45° rotation between the layers.

Genome-wide analysis of chronic obstructive pulmonary disease identifies 82 loci, 35 of which are new. Integration of gene expression and genomic annotation data shows enrichment of signals in lung tissue, smooth muscle and several lung cell types.

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.

Helium-3 gas proportional counters are the most used detector type for thermal neutron detection in a wide range of applications, but the scarcity of Helium-3 calls for alternatives. The authors presented a detector based on a scintillating composite consisting of Lithium-6 enriched glass scintillator particles dispersed in an organic matrix as a viable alternative to Helium-3 detectors

The nature of the so-called pseudogap phase exhibited by many cuprate superconductors is one of the most puzzling questions in the field of unconventional superconductivity. Allais et al. present a model that can reconcile some of the experimental observations at high and low fields.

Strong spin-orbit coupling in SrIrO₃ mixes the orbital character of iridium d-bands, resulting in correlated narrow bands and a metal-insulator transition. Here, the electric field generated by ionic liquid gating is used to manipulate the band structure, triggering a reversible control of the metal-insulator transition.

The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

Nonreciprocal components are widely used in optical circuits but the magneto-optic effects they are based on pose difficulties for on-chip integration. Here, Ruesink et al. propose an optomechanical scheme to break reciprocity without the need for magnetic fields.

Kathryn Lunetta and colleagues report a meta-analysis of 22 genome-wide association studies for age at menopause. They identify 13 loci newly associated with age at natural menopause, including several candidate genes with roles in DNA repair and immune function.

Floquet topological electromagnetic circuits based on quasi-electrostatic helicoidally rotating elements can be used to create chip-scale antenna interfaces for 5G phased-array applications and wideband impulse radar beamforming.

A survey of potency and efficacy of 2,025 clinically relevant two-drug combinations against 125 molecularly characterized breast, colorectal and pancreatic cancer cell lines identifies rare synergistic effects of anticancer drugs, informing rational combination treatments for specific cancer subtypes.

A study shows that clonal haematopoiesis of indeterminate potential is associated with an increased risk of chronic liver disease specifically through the promotion of liver inflammation and injury.

A singlet-triplet spin qubit using holes in a Ge quantum well is demonstrated, and can be operated at low magnetic fields of a few millitesla.

Reviewing online resources and additional literature on national red lists, 361 extinct seed-plant taxa were identified. Of these, 556 herbarium specimens belonging to 161 extinct species were found to have a high ‘de-extinction candidate’ score.

Dysfunction of the lymphatic system leads to secondary lymphedema and results in degradation of quality of life. Here, the authors show that delivery of nucleoside-modified Vascular Endothelial Growth Factor C (VEGFC) mRNA, encapsulated in lipid nanoparticles, induces organ-specific lymphatic growth and reverses experimental lymphedema.

In three dimensions, magnetic Skyrmions can form extended strings. By connecting the ends of a Skyrmionic string, a magnetic Hopfion is formed. Here, the authors present experimental evidence for the appearance of Hopfions, a topological soliton defined by a Hopf number, in a magnetic system.

Discrete time crystals are typically characterized by a period doubled response with respect to an external drive. Here, the authors predict the emergence of rich dynamical phases with higher-order and fractional periods in clean spin-1/2 chains with long-range interactions.

Time-resolved X-ray scattering is utilized to demonstrate an ultrafast 300 ps topological phase transition to a skyrmionic phase. This transition is enabled by the formation of a transient topological fluctuation state.

Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

In the non-randomized phase 3b/4 DESTINY-Breast12 study, trastuzumab deruxtecan (T-DXd) treatment of patients with HER2⁺ advanced breast cancer and active or stable brain metastases showed consistent intracranial activity and systemic efficacy of T-DXd.

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

The CMS Collaboration reports evidence for off-shell Higgs boson contributions in the production of Z boson pairs, and measures the width of the Higgs boson, which is inversely related to its lifetime.

The CMS Collaboration reports the study of three simultaneous hard interactions between quarks and gluons in proton–proton collisions. This manifests through the concurrent production of three J/ψ mesons, which consist of a charm-quark–antiquark pair.

Quantum transport in superconductors remains difficult to study due to the typically small Fermi wavelength. Here, Thierschmann et al. demonstrate a superconducting quantum point contact with split gate technology at the superconducting LaAlO₃/SrTiO₃ interface and, due to its two-dimensionality, identify three regimes of quantum transport.

Nonreciprocal optical elements mostly rely on magnetic fields to break time-reversal symmetry, an approach that is difficult to integrate on-chip. Here, Ruesink et al. describe and demonstrate 4-port circulation at telecom wavelengths using a magnetic-field-free optomechanical resonator.

Whole-exome sequencing identifies ten risk genes for schizophrenia implicated by rare protein-coding variants, a subset of which overlap with risk genes in other neurodevelopmental disorders.

Conventional imagers require time-consuming data acquisition, or complicated reconstruction algorithms for data post-processing. Here, the authors demonstrate a real-time digital-metasurface imager that can be trained in-situ to show high accuracy image coding and recognition for various image sets.

Single-particle resolved measurements in an ultracold-atom experiment reveal an intuitive picture of quantum correlations, providing strong constraints on the full density matrix of the two-particle system in the presence of interactions.

The most up-to-date combination of results on the properties of the Higgs boson is reported, which indicate that its properties are consistent with the standard model predictions, within the precision achieved to date.