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A meta-analysis of genome-wide association studies of type 2 diabetes (T2D) identifies more than 600 T2D-associated loci; integrating physiological trait and single-cell chromatin accessibility data at these loci sheds light on heterogeneity within the T2D phenotype.

This paper shows that integrating diverse stakeholders into management plans results in better protection, especially for those most vulnerable to the impacts of natural resource depletion.

A modular quantum system-on-chip architecture integrates thousands of individually addressable spin qubits in two-dimensional quantum microchiplet arrays into an integrated circuit designed for cryogenic control, supporting full connectivity for quantum memory arrays across spin–photon channels.

High sensitivity in quantum sensing comes often at the expense of other figures of merit, usually resulting in distortion. Here, the authors propose a protocol with good sensitivity, readout linearity and high frequency resolution, and benchmark it through signal measurements at audio bands with NV centers.

By sandwiching a germanium fin between complementary in situ-doped silicon layers, a waveguide-coupled germanium photodiode with a 3-dB bandwidth of 265 GHz, accompanied by high responsivity and low dark current, is realized.

ADHD is often found to be comorbid with disruptive behavior disorders, but the genetic loci underlying this comorbidity are unknown. Here, the authors have performed a GWAS meta-analysis of ADHD with disruptive behavior disorders, finding three genome-wide significant loci in Europeans, and replicating one in a Chinese cohort.

The authors combined optical traps and frequency combs to create new acoustic technology – a mechanical frequency comb. The generation of this comb does not require any precision control, making it uniquely positioned for sensing, metrology, and quantum technology.

The suppression of dark current in organic photodetectors (OPDs) is important for maximizing the performance of the devices. Here, the authors report the relationship between the high dark saturation current and the presence of mid-gap trap states in OPDs with a donor–acceptor structure.

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.

Active matter, such as swimming bacteria, show unique behaviors under confinement, but it is experimentally challenging to measure them. Takatoriet al. show the use of acoustic tweezers to trap self-propelled Janus particles as an enabling tool to investigate collective motions in living systems.

By using three silicon spin qubits to construct a phase-correcting code, quantum error correction is implemented and protection of the three-qubit state against any phase-flip error on one of the three qubits is demonstrated.

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.

A frequency-tunable laser based on a hybrid silicon nitride and lithium niobate integrated photonic platform has a fast tuning rate and could be used for optical ranging applications.

Mapping of groundwater-dependent ecosystems, which support biodiversity and rural livelihoods, shows they occur on more than one-third of global drylands analysed, but lack protections to safeguard these critical ecosystems and the societies dependent upon them from groundwater depletion.

A pan-cancer genomic analysis reports the effects of structural variations on chromatin domains (TADs). Most TAD disruptions do not result in appreciable changes in expression of nearby genes.

Stretchable and self-healing light-emitting capacitors operating at low frequency and low voltage have been realized using a transparent elastomeric dielectric with high permittivity.

Using germanium quantum dots, a four-qubit processor capable of single-, two-, three-, and four-qubit gates, demonstrated by the creation of four-qubit Greenberger−Horne−Zeilinger states, is the largest yet realized with solid-state electron spins.

The authors present a multiomics study of type 2 diabetes and quantitative blood lipid and lipoprotein traits in Hispanic/Latino populations. They demonstrate how integrating GWAS with omics characterization can advance precision medicine.

Nitrogen–vacancy centres can be used as in situ quantum sensors to map the electric field in an electrical device based on a hydrogen-terminated diamond surface.

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.

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

The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet-base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

While efficiency of nanocrystal-based devices has improved, charge transport within semiconductors assembled from nanocrystal quantum dots has remained unclear. Here, the authors use ab initio calculations to develop a predictive model for charge transport that also explains the origin of deep electronic traps and validate it experimentally.

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.

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.

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.

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.

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.

Genome-wide analyses identify variants associated with infertility and reproductive hormone levels but find limited polygenic overlap between reproductive hormone levels and infertility at the population level.

Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.

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.

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.

Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.

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.

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.

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.

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.

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.