Search

2D diamond is expected to show superior properties compared to bulk diamond, but its synthesis remains challenging. Here, the authors report a high-temperature high-pressure method to fabricate thermally stable 2D diamond via laser-heating of few-layer graphene in a diamond anvil cell, providing relevant insights into the 2D graphene-diamond transformation 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.

Precision control of stereochemistry in radical reactions remains a formidable challenge. Here the authors demonstrate an electricity driven asymmetric Lewis acid catalysis to facilitate asymmetric dienylation and allylation reactions, resulting in the formation of all-carbon quaternary stereocenters.

Luminescent cerium(III) compounds with 5d-4f transition have received extensive interest in phosphor, photocatalysis, and electroluminescence, but pushing emission beyond 700 nm is challenging. Here, the authors report a series of molecular Ce(III) complexes with S-coordinating dithiobiuret ligands that emit at 725 nm with 31% quantum efficiency.

The spatiotemporal relationship between neuromodulator and neurotransmitter dynamics and neuronal activity remains unclear. Here, the authors performed dual-color imaging of calcium and ACh/5-HT signals across the fly brain, revealing a key role of ACh dynamics in stable odor representation.

CD36 drives lymph node metastasis in breast cancer by activating YAP signaling-mediated anoikis resistance via inducing the PPARα-CYP7A1 bile acid biosynthesis pathway.

In this Perspective, members of the Aging Biomarker Consortium outline the X-Age Project, an Aging Biomarker Consortium plan for building standardized aging clocks in China. The authors discuss the project roadmap and its aims of decoding aging heterogeneity, detecting accelerated aging early and evaluating geroprotective interventions.

Published sequencing data sets of cancer samples could be used to identify genetic variants associated with the risk of developing cancer. Here, Luet al. analyse over 4,000 tumour-normal pairs to reveal variable frequencies of inherited susceptibilities across 12 cancer types and find enrichment of functionally validated missense variants of unknown significance.

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.

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.

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.

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.

Lu et al. report a pathway that reprograms protein quality control under stress. Identified in a Caenorhabditis elegans screen and characterized in mammalian systems, L3MBTL1 and its partner SETD8 modulate proteotoxicity and are deregulated in patients with ALS/FTD.

Modulating the electrochemical interface at the atomic level is challenging due to the lack of efficient interfacial regulators. Here, the authors report using a porous amine cage as an interfacial modifier to enhance alkaline hydrogen evolution reaction kinetics by facilitating charge transfer.

The prostate is an important part of the male reproductive system whose aging process is incompletely understood. Sun et al. identify GRHL2 downregulation as a driver of prostate aging. They show that GRHL2 transactivates CDK19 to inhibit p53−p21 signaling and demonstrate that GRHL2 gene therapy alleviates age-related urinary dysfunction in mice.

Through multimodal analyses of human cardiac tissues across different ages, Fan, Zheng, Zhan, Xu, Liu and colleagues reveal that RNA-binding protein ARID5A drives inflammaging by stabilizing the MAVS mRNA and activating the NF-κB–TBK1 pathway, and show that inactivating myocardial ARID5A attenuates cardiac senescence and functional decline.

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.

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 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.

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.

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.

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.

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.

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

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 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.

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.

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.

Non-obstructive azoospermia (NOA) is a major cause of male infertility. Here, the authors provide insight into the genetic basis of NOA by identifying three new genetic risk loci in a genome-wide association study and reporting a fourth potential NOA susceptibility locus based on a Drosophilaknockdown experiment.

Germline variants that predispose to lung cancer have been mostly studied in Western populations, but data from Chinese patients is lacking. Here the authors analyze lung cancer germline variants in 1794 Chinese patients, finding exclusive variants or with different frequency compared to TCGA data.

This randomized trial assessed the effectiveness and safety of single blastocyst transfer vs single cleavage-stage embryo transfer among women with good prognosis. Here, the authors show improved cumulative live birth rates and relatively unfavorable perinatal outcomes after blastocyst transfer.

Here the authors measure viral load in samples from skin lesions, saliva, oropharynx, and rectum of 77 patients with acute monkeypox virus infection as well as from environmental fomite swabs and show a high seropositivity rate for antibodies against A29L and H3L.

To measure temperatures close to absolute zero, authors developed a kind of composite phase diamond (CPD) that can measure temperature at the millikelvin level, making it a promising candidate for next–generation cryogenic temperature sensors.

Jiahao Sha, Xinru Wang, Hongbing Shen and colleagues report a genome-wide association study of non-obstructive azoospermia in Chinese men. They identify common variants near three genes (PRMT6, PEX10 and SOX5) associated with this form of male infertility.

Analyses of whole-genome sequencing data in children and validation in mouse models show that offspring born from blastocyst-stage embryo transfer have shorter leukocyte telomere lengths.

A CRISPR–Cas9 screen in a tumour mouse model identifies CD300ld as a tumour receptor on polymorphonuclear myeloid-derived suppressor cells and in vivo experiments indicate that it is a promising target for cancer immunotherapy.

Single-cell transcriptomics of human lung tissue from individuals with tuberculosis identifies signatures of inflammation, apoptosis and senescence affecting immune, epithelial and endothelial cells linked with long-term pulmonary impairment.

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.

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.

Systematic analysis of cancer-associated mutations in the blood cells of healthy individuals.