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

Scholl et al. show that PopZ forms filamentous condensates driven by its helical domain and inhibited by its disordered region. Phase-dependent conformations modulate client interactions and disruption of filamentation or condensation impairs cellular function and growth.

Neutrophils infiltrate glioblastomas with the capacity to engage pro/anti tumoural responses. Here the authors developed proteomic workflows to stratify neutrophil heterogeneity by function. This work provides a platform to study neutrophil proteomes with single cell resolution in glioblastoma.

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.

Genome-wide association meta-analysis identifies 58 independent risk loci for major anxiety disorders among individuals of European ancestry and implicates GABAergic signaling as a potential mechanism underlying genetic risk for these disorders.

Genetic mapping in mice identified Homer1a as a key modifier of attention. Developmental downregulation in the prefrontal cortex enhances inhibitory tone, neural signal to noise and adult attentional performance, revealing a new control mechanism and target.

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.

Free-space meta-optics with ultrahigh quality(Q)-factor at visible wavelengths is demanded but very challenging to achieve due to the fabrication imperfections. Here, the authors design an etch-free metasurface with minimized fabrication defects and experimentally demonstrate a million-Q resonance at 779 nm wavelength.

When interfaced with a current-carrying heavy metal, spin orbit effects can generate a torque on the magnetization of a ferromagnet, understood as a bulk effect. Here, the authors show evidence of an interfacial contribution to such spin orbit torque in O-doped W/CoFeB thin film systems.

A materials platform using tantalum as a base layer and silicon as the substrate to construct superconducting qubits enables device performance improvements such as millisecond lifetimes and coherence times, as well as high time-averaged quality factors.

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.

There has been significant interest in using spin-waves or magnons for information processing, due to their low energy dissipation and short wavelength at terahertz frequencies, however, manipulating magnons can be challenging. Here, Kim et al show that magnons in Sr2IrO4 are extremely strain sensitive, with small applied strains leading to large variation in the magnon energy.

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

In a phase 3 trial for Huntington’s disease, pridopidine did not meet its primary endpoints but was safe and favored in some prespecified subgroup analyses.

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

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.

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.

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.

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.

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 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.

Low-loss superconducting aluminium cables and on-chip impedance transformers can be used to link qubit modules and create superconducting quantum computing networks with high-fidelity intermodule state transfer.

Nematic liquid crystal elastomers (LCE). exhibit unique mechanical properties such as large loss behaviour, which makes these materials interesting for damping applications. Here, the authors investigate the effect of anomalous damping in LCEs by comparing impact dissipation in shaped samples with elastic wave transmission and resonance.

MEMS-based photonic integrated circuits (PICs) are often limited in speed by mechanical resonances. Here the authors report a programmable architecture for PICs which uses mechanical eigenmodes for synchronized, resonantly enhanced optical modulation.

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.

A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.

Energy harvesting devices based on micro-electromechanisms (MEMS) is attractive for sustainable energy applications. Here, the authors report the theoretical working principle of a lightweight, low-voltage AC-current generating MEMS-based capacitive rotor device for Watts-level power generation from everyday walking.

A radio-loud magnetar, XTE J1810–197, has been observed to precess shortly after an X-ray outburst. The precession decayed over the subsequent few months, which probably rules out freely precessing magnetars as the source of the fast radio bursts.

Shape memory scaffolds are needed for minimally invasive tissue repair and void filling. Here the authors report on the development of 4D printed polycarbonate-based scaffolds with surface degradation properties which fill voids without deforming tissue and allow for tissue ingrowth with reduced immune response.

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.

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

A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.

FRB 20221022A, detected by the Canadian Hydrogen Intensity Mapping Experiment Fast Radio Burst project, shows a pronounced change in polarization during the burst, providing important clues into the nature of the source.

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.

Diet affects the human gut microbiome, but studies linking crop genetics to seed traits that influence the human gut microbiome are lacking. Here, the authors develop an in vitro microbiome screening method and reveal the association between sorghum genes regulating condensed tannin biosynthesis and human gut microbiome.

To advance the design of soft robots, novel computational frameworks that accurately model the dynamics of soft material systems are required. Here, the authors report a numerical framework for studying locomotion in limbed soft robots that is based on the discrete elastic rods algorithm.

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.

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.

In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.

MORC2, a chromatin remodeler involved in epigenetic silencing and DNA repair, is linked to cancer and neurological disorders when dysregulated. Here, the authors show that MORC2 binds DNA at multiple sites, clamps onto it, and induces compaction, a process regulated by its phosphorylation.

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.

Radio pulses from a rare, radio-loud magnetar, XTE J1810−197, are seen to have undergone a conversion in their polarization state. This change can be linked to the magnetar’s magnetic field geometry, and has commonalities with an effect also seen in fast radio bursts.

Small lightning flashes detected on Jupiter by Juno have shallow origins above the 2-bar level of Jupiter’s atmosphere where temperatures are too low for liquid water to exist.

The production of higher alcohols is very valuable because of their high volumetric energy density. Now, Sargent, Sinton and co-workers report the design of copper nanoparticles with tailored nanocavities that promote n-propanol formation by the coupling of C2 and C1 intermediates inside the cavity.

Earth’s largest dune fields are set to become less dynamic on average over this century due to anthropogenic climate change, with no future action able to mitigate this effect, as predicted by the newest iteration of CMIP models.

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.