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Metal–sulfur motifs are commonly found in enzymatic active sites and heterogeneous catalysis, but they remain underexplored in porous solids. Now, sulfur-based ligands have been incorporated into metal–organic frameworks through post-synthetic modifications. The resulting sulfide MOFs exhibit enhanced catalytic performance in the selective hydrogenation of nitroarenes compared with their parent MOFs containing terminal or bridging chloride and hydroxyl groups.

QUILT is a method for rapid genotype imputation and phasing from low-coverage whole-genome sequence data using a large haplotype reference panel. QUILT enables highly accurate imputation across a range of coverages and data types.

Green hydrogen production via water electrolysis requires a low-cost solution to provide efficient catalysts. Here, the authors report an industrially scalable method for synthesizing NiFe layered double hydroxide at room temperature and atmospheric pressure, enhancing alkaline electrolysis.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

Fatty liver disease exacerbates atherosclerosis, but the underlying mechanisms remain unclear. Here, the authors show that D-dopachrome tautomerase (D-DT/MIF-2) acts as an atypical chemokine, promoting both atherosclerosis and hepatic lipid accumulation.

Micrometre-thick oriented 2D covalent organic framework (COF) films are prepared via kinetically trapped 3D covalent adaptable network (CAN) intermediates. Imine-linked CANs are formed through solution casting and align spontaneously during solvent evaporation. Upon solvothermal treatment, the amorphous CANs are converted into porous crystalline COF films without losing their molecular alignment.

Estimates from the Global Dietary Database indicated that 2.2 million new type 2 diabetes and 1.2 million new cardiovascular disease cases were attributable to sugar-sweetened beverages worldwide in 2020, with the highest burdens in sub-Saharan Africa, Latin America and the Caribbean.

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Defined levels of SARS-CoV-2-specific binding and neutralizing antibodies elicited by the COVID-19 vaccine ChAdOx1 nCoV-19 are identified as correlates of protection against symptomatic infection.

The evolution of oceanic redox state in the past is poorly known. Here, the authors present a temporal record of banded iron formations and marine red beds, which indicate deep-ocean oxygenation occurred in the middle Ediacaran, coinciding with the onset of widespread marine red beds.

Structure-forming systems, such as chemical reaction networks, are usually described with the grand-canonical ensemble, but this may be inaccurate for small-sized systems. Here, the authors propose a canonical ensemble approach for closed structure-forming systems, showing its application to physical problems including the self-assembly of soft matter.

Radiometric dating and oxygen isotopes of Pilbara Craton zircons reveal early continent formation via seafloor hydrothermal alteration and subsequent shallow depth partial melting of mafic protcrust some 3565 million years ago.

Smoking remains a leading cause of preventable death and disease. Here, the authors explore the link between smoking and DNA methylation using arrays and next generation sequencing, and develop mCigarette, an epigenetic biomarker of smoking.

A highly chemoselective and enantioselective cross-electrophile coupling using ‘ene’-reductases is reported, and photoexcited enzymes demonstrate the ability to carry out reactions between electrophiles that are not known for small-molecule catalysis.

Whole-genome sequencing of liver microdissections from five healthy individuals and nine with cirrhosis demonstrates the effects of liver disease on the genome, including increased rates of mutation, complex structural variation and different mutational signatures.

Two-dimensional transition metal carbides and nitrides, known as MXenes, are currently considered as energy storage materials. A generic Lewis acidic etching route for preparing high-rate negative-electrode MXenes with enhanced electrochemical performance in non-aqueous electrolyte is now proposed.

The consistent description of diffusion coefficients (self-diffusion and mutual diffusion) in liquid mixtures across different phases is a challenge. Here, the authors develop a model based on entropy scaling and molecular-based equation of state.

A nanoporous photocatalyst producing low levels of hydrogen peroxide is shown to modulate intracellular stress granules, enhancing resilience against oxidative stress and providing cardioprotection in an ex vivo rodent model of myocardial ischaemia–reperfusion injury.

A prototype microscope built with self-reconstructing Bessel beams is shown to be able to reduce scattering artifacts as well as increase image quality and penetration depth in three-dimensional inhomogeneous opaque media.

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.

This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

Available enzymatic CO2 reduction strategies are not suitable for aerobic microorganisms and many industrial settings. Here, the authors design a new metabolic pathway that can operate under fully aerobic conditions, ambient CO2 levels, and seamlessly integrate with well-established C1-assimilation pathways.

DEED captures the balance between entropy gains and costs, allowing the correct classification of functional synthesizability of multicomponent ceramics, regardless of chemistry and structure, and provides an array of potential new candidates, ripe for experimental discoveries.

Frequent dispersal and short-lived local transmission clusters fuelled the 2013–2016 Ebola virus epidemic in Guinea, Liberia and Sierra Leone.

SwitchSeeker combines computational and experimental techniques to identify functional RNA structural switches. Applied to the human transcriptome, it identified a novel RNA switch in the 3ʹUTR of RORC, linked to nonsense-mediated decay.

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.

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.

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.

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.

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.

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.

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.

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.