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Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

A cavity-array microscope is realized using intra-cavity lenses to create a two-dimensional array of over 40 modes, each coupled to a single atom in free-space.

Identifying jets originating from heavy quarks plays a fundamental role in hadronic collider experiments. In this work, the ATLAS Collaboration describes and tests a transformer-based neural network architecture for jet flavour tagging based on low-level input and physics-inspired constraints.

Vassy, Dornisch and colleagues developed a genomics-based prostate cancer risk model to support a randomized clinical trial of precision screening in a national healthcare system.

Certain materials without inversion symmetry may allow for a nonlinear anomalous Hall effect with conserved time reversal symmetry. Here, the authors report an extremely large c-axis nonlinear anomalous Hall effect in the non-centrosymmetric T_d phase of MoTe₂ and WTe₂ without intrinsic magnetic order that is dominated by extrinsic scattering.

Topological phases in quantum many-body systems emerge from long-range entanglement rather than symmetry breaking, giving rise to properties such as topology-dependent degeneracy, protected edge modes and anyonic excitations. This Review discusses recent advances on how to realize and study such interacting topological states on digital quantum computers.

Hiʻiaka is the largest moon of the distant dwarf planet Haumea. Here, the authors report the first multi-chord stellar occultations of Hiʻiaka, revealing its size, shape, and density, suggesting an origin from Haumea’s icy mantle.

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

Charge-to-spin conversion is critical element for spintronic devices. In most materials, there are several sources of charge-to-spin conversion, which are often challenging to disentangle. Here, Chen et al succeed in disentangling spin Hall and Rashba-Edelstein contributions to charge-to-spin conversion in ultrathin MoTe2 using position dependent measurements of the current-induced spin accumulation.

In some materials electrons can behave hydrodynamically, exhibiting phenomena associated with classical viscous fluids. In this theory work, the authors show that the symmetries of the crystal lattices in which the electrons reside can lead to additional unique hydrodynamic effects.

Small molecules diffusing into a thin film of thiophene-based conjugated polymers act as p-type dopants without altering the ordered microstructure of the film. As a result, free-electron-like charge transport is also observed at high doping levels.

The authors analyze 162 primary mismatch-repair-deficient gliomas and identify three subgroups underpinned by distinct somatic mutations in replicative DNA polymerases and IDH1.

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.

The CMS Collaboration reports the measurement of the spin, parity, and charge conjugation properties of all-charm tetraquarks, exotic fleeting particles formed in proton–proton collisions at the Large Hadron Collider.

Robots benefit from touch perception, but sensing multi-directional forces is challenging. Here, the authors introduce a theory using taxel value isolines for superresolution sensing, improving sensor design and performance under shear forces.

Femtosecond photoexcitation drives a coherent twist–untwist motion of the moiré superlattice in 2° and 57° twisted WSe₂/MoSe₂ heterobilayers.

Some cancer patients first present with metastases where the location of the primary is unidentified; these are difficult to treat. In this study, using machine learning, the authors develop a method to determine the tissue of origin of a cancer based on whole sequencing data.

Here authors show loss of AKAP11, a strong genetic risk factor for bipolar disorder and schizophrenia, disrupts PKA proteostasis and signaling, leading to widespread transcriptomic alterations across the brain, particularly in striatal neurons, as well as altered behavior.

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).

Assessment of surface contamination shows that trace oxygen is a key factor influencing the trajectory and quality of graphene grown by low-pressure chemical vapour deposition, with oxygen-free synthesis showing increased reproducibility and quality.

Terahertz absorption reduces the viscosity of the hydrodynamic electron fluid in graphene and thereby enables easier flow of electrons. This results in a drop in resistance within graphene constrictions under terahertz radiation, facilitating fast and sensitive terahertz detection.

Chronic care manages long-term, progressive conditions, while acute care handles short-term ones. Here, authors show chronic conditions account for most of the global health burden, with 68% of DALYs and 93% of YLDs attributed to chronic care needs.

A crucial prerequisite for semiconductor-based spintronic devices is that the spins of the charge carriers can be efficiently injected and detected. Here, the authors achieve such functionality in niobium-doped strontium titanate by the Hanle technique, and at the same time demonstrate the limitations of this approach.

Pseudo-Landau levels in strained graphene modify not only the local density of states, but also the transport through a Hall bar device.

Phosphorene nanoribbons demonstrate extraordinary magnetic properties, ranging from large internal fields in films to macroscopic alignment in solution, which can be coupled to photoexcitations that localize to the magnetic edge of these ribbons.

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.

Many tumours exhibit hypoxia (low oxygen) and hypoxic tumours often respond poorly to therapy. Here, the authors quantify hypoxia in 1188 tumours from 27 cancer types, showing elevated hypoxia links to increased mutational load, directing evolutionary trajectories.

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

Despite their name, the bulk electrical conductivity of most topological insulators is relatively high, masking many of the important characteristics of its protected, surface conducting states. Counter-doping reduces the bulk conductivity of Bi₂Se₃ significantly, allowing these surface states and their properties to be clearly identified.

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

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.

Tools for diversifying genomic DNA in mammalian cells have long relied on base editors making C to T or A to G substitutions. Here, authors use RNA-guided DNA polymerases (EvolvR) to evolve mammalian cells using all twelve substitutions and show that nickase fidelity affects EvolvR’s mutation rates.

Valuable insight into the influence of scattering from impurities on the peculiar electronic properties of graphene are gained by a systematic study of how its conductivity changes with increasing concentration of potassium ions deposited on its surface.

The low-density lipoprotein receptor family members LRP1, LRP4 and VLDLR are entry receptors for yellow fever virus.

Engineering a coupling between magnetic molecules and conducting materials at room temperature could help the development of spintronic devices. Loh et al. show that the spin state of QDTP molecules deposited on graphene and MoS₂ couples to their electronic structure, affecting magnetotransport.

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.

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.

Analysis of human Robertsonian chromosomes originating from 13, 14 and 21 reveal that they result from breaks at the SST1 macrosatellite DNA array and recombination between homologous sequences surrounding SST1.

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.

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.

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.

We demonstrate an avalanche photodiode design using photon-trapping structures to enhance the quantum efficiency and minimizing the absorber thickness, yielding high quantum efficiency, suppressed dark current density and bandwidth of ~7 GHz.

Reopening of universities to students following COVID-19 restrictions risks increased transmission due to high numbers of social contacts and the potential for asymptomatic transmission. Here, the authors use a mathematical model with social contact data to estimate the impacts of reopening a typical non-campus based university in the UK.

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.