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MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

cellSTAAR advances noncoding rare variant association analysis by integrating single-cell genomics data.

Atomic force microscopy is used to investigate the adsorption and organization of ions on charged surfaces. Trivalent ions adopt complex networks, clusters and layers associated with overcharging, whereas divalent ions follow classical predictions.

In most metals the optical Hall effect is very small at visible wavelengths, and usually can only be observed at low frequencies. Here, Am-Shalom et al present a technique involving a large amplitude modulation of the external magnetic field, allowing for the measurement of the optical Hall effect in a range of metals at visible wavelengths.

Multi-ancestry GWAS meta-analysis identifies risk loci for severe nausea and vomiting of pregnancy. Downstream analyses explore maternal and fetal contributions of these loci and their temporal effects.

STAAR is a powerful rare variant association test that incorporates variant functional categories and complementary functional annotations using a dynamic weighting scheme based on annotation principal components. STAAR accounts for population structure and relatedness and is scalable for analyzing large whole-genome sequencing studies.

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

Masers are promising for applications that use microwave radiation. Here, the authors present a compact room-temperature maser design using a high permittivity dielectric material for the resonator to achieve low optical pumping powers. This design pushes masers closer towards their promised applications.

Analysis of cancer genome sequencing data has enabled the discovery of driver mutations. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium the authors present DriverPower, a software package that identifies coding and non-coding driver mutations within cancer whole genomes via consideration of mutational burden and functional impact evidence.

There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.

Multi-omics datasets pose major challenges to data interpretation and hypothesis generation owing to their high-dimensional molecular profiles. Here, the authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery.

MetaSTAAR enables functionally informed rare variant association analysis in biobank-scale cohorts using an efficient, sparse matrix approach for summary statistic storage.

The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.

The authors advance the foundations of exciton-polariton transport based on a field-theoretical approach. This provides microscopic insight on the experimentally observed group velocity renormalization effect.

Analyses of 2,658 whole genomes across 38 types of cancer identify the contribution of non-coding point mutations and structural variants to driving cancer.

Magnetic skyrmions are topological spin textures that hold potential for the development of post-von Neumann computing schemes. In coupled ferrimagnetic insulators, pinning effects and intentional distortions can lead to a ratchet-like current-driven motion of skyrmion bubbles.

Piezoelectrics have longitudinal and transverse piezoelectric coefficients that are opposite in sign. Here, by tuning the interface inversion asymmetry in heterostructures, auxetic systems with positive longitudinal and transverse coefficients are realized, with expansion or contraction along all directions in an electric field.

With rich, multi-layered baseline data and long-term follow-up through linkage, the HELIOS Study provides a resource to investigate the behavioural, environmental, genomic, and molecular factors impacting health in Asian populations.

Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

Experiments show that when driven by electric currents, magnetic skyrmions experience transverse motion due to their topological charge — similar to the conventional Hall effect experienced by charged particles in a perpendicular magnetic field.

Understanding deregulation of biological pathways in cancer can provide insight into disease etiology and potential therapies. Here, as part of the PanCancer Analysis of Whole Genomes (PCAWG) consortium, the authors present pathway and network analysis of 2583 whole cancer genomes from 27 tumour types.

Brown dwarfs are substellar objects subject to variability and colour changes. A 3D general circulation model shows that clouds explain this observed behaviour and highlights their role as a driver of atmospheric dynamics and climate.

Spectral phasor analysis allows unmixing fluorescence microscopy images, but it requires user involvement and has a limited number of labels that can be analyzed and displayed. Here the authors present a semi-automated solution to visualise multiple spectral components of hyperspectral fluorescence images, simultaneously.

Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.

The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

Though multiplexing meta-holograms remains an attractive approach for realizing optical encoding, existing methods encode information based on the intensity of the holographic images. Here, the authors report vectorial metasurfaces that decouple and encode intensity and polarization information.

Rare cell-derived vesicles have the potential to play a key role in early disease detection. Here, authors introduce a highly sensitive and high throughput nanoparticle analyzer, which combines unsupervised deep learning denoising with specialized hardware to detect rare disease-related vesicles.

Plasmid-mediated transmission plays a significant role in the spread of carbapenem-resistant Enterobacterales. Here, analyzing 1,115 carbapenemase-producing plasmids from Singapore, the authors suggest that maintenance of conserved genomes adapted for stable propagation across multiple species, enables evolutionarily successful carbapenemase plasmid genotypes to achieve hyperendemicity in the population.

The authors present a framework for modeling cell interactions using rigid bodies, which can used to represent cells as free moving polygons, to allow epithelial layers to smoothly interact, to model bacteria and to robustly represent membranes.

Here, the authors perform Faraday rotation spectroscopy around the excitonic transitions in hBN-encapsulated WSe₂ and MoSe₂ monolayers, and interlayer excitons in MoS₂ bilayers. They measure a large Verdet constant - 1.9 × 10⁷ deg T⁻¹cm⁻¹ for monolayers, and attribute it to the giant oscillator strength and high g-factor of the excitons.

In somatic cells the mechanisms maintaining the chromosome ends are normally inactivated; however, cancer cells can re-activate these pathways to support continuous growth. Here, the authors characterize the telomeric landscapes across tumour types and identify genomic alterations associated with different telomere maintenance mechanisms.

The advantage of living in cities compared with rural areas with respect to height and BMI in children and adolescents has generally become smaller globally from 1990 to 2020, except in sub-Saharan Africa.

The ATLAS Collaboration reports the observation of the electroweak production of two jets and a Z-boson pair. This process is related to vector-boson scattering and allows the nature of electroweak symmetry breaking to be probed.

Understanding the fracture toughness of metallic glasses remains challenging. Here, the authors show that a fictive temperature controls an abrupt mechanical toughening transition in metallic glasses, and can explain the scatter in previously reported fracture toughness data.

An analysis of 2,954 genomes from 38 cancer subtypes identified 19,166 retrotransposition events in 35% of samples. Aberrant LINE-1 retrotranspositions can lead to the deletion of tumor-suppressor genes as well as the amplification of oncogenes.

DeepRETStroke is a deep learning system using retinal photographs to detect silent brain infarction and predict future stroke events.

Deep ALMA archival observations of submillimetre-bright galaxies at high redshifts show that spheroidal bulges formed much earlier than expected and are directly generated by star formation within the cores of highly luminous starburst galaxies.

Cancers evolve as they progress under differing selective pressures. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, the authors present the method TrackSig the estimates evolutionary trajectories of somatic mutational processes from single bulk tumour data.

Trained and validated on multimodal data from 14.5 million images from multicountry datasets, a foundation model is shown to increase diagnostic and referral accuracy of clinicians when used as an assistant in a trial involving 16 ophthalmologists and 668 patients.

A scheme to prepare a magic state, an important ingredient for quantum computers, on a superconducting qubit array using error correction is proposed that produces better magic states than those that can be prepared using the individual qubits of the device.

The ATLAS Collaboration reports a measurement of the ratio of the decay rates of W bosons to τ leptons and muons, in agreement with universal lepton couplings as postulated in the standard model of particle physics.

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.

A multi-ancestry genome-wide gene–smoking interaction study identifies 13 new loci associated with serum lipids.

Simultaneous recordings from hundreds of grid cells in rats, combined with topological data analysis, show that network activity in grid cells resides on a toroidal manifold that is invariant across environments and brain states.

Humanity’s Last Exam, a multi-modal benchmark at the frontier of human knowledge, is designed to be an expert-level closed-ended academic benchmark with broad subject coverage.

In situ methods for water quality monitoring is crucial for global water use and management, though many conventional sensors have slow response time and are non-recyclable. Here, the authors report a recyclable amphiphobic dielectric material for fast monitoring of water pollutants.