Search

The RECQL5 DNA helicase interacts with RNA polymerase II (Pol II) and inhibits transcription through an unknown mechanism. A series of structural and functional analyses now reveals that RECQL5 sterically blocks elongation while also competing with elongation factor TFIIS for binding to Pol II, suggesting a dual mode of transcriptional repression.

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.

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.

A combined-ancestry GWAS of diabetic retinopathy, comprising 68,169 cases and 129,188 controls, revealed nine previously unreported loci associated with the condition, including an evolutionarily adaptive genetic variant alongside a potential functional mechanism that influences racial disparities in diabetes complications among individuals of non-Hispanic African ancestry.

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.

A precise structure measurement of liquid carbon at pressures of around 1 million atmospheres obtained by in situ X-ray diffraction at an X-ray free-electron laser shows a complex fluid with transient bonding and approximately four nearest neighbours on average.

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.

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.

Microorganisms from the terrestrial subsurface are understudied. Here, Anantharamanet al. analyse aquifer sediments and groundwater by genome-resolved metagenomics and reconstruct 2,540 genomes representing the majority of known bacterial phyla as well as 47 new phylum-level lineages.

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.

A burning plasma, a critical step towards self-sustaining fusion, is achieved at the US National Ignition Facility, with a subset of experiments demonstrating fusion self-heating beyond radiation and conduction losses.

High-resolution speleothem records and an isotope-enabled climate model suggest distinct responses of East Asian summer monsoon δ¹⁸O to various kinds of interstadials, driven by nuanced shifts of Westerlies modulated by high-latitude warming intensity.

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.

U/Th-dated Asian monsoon records from Shima Cave, covering 142–122 ka BP, constrain the timing of a CO₂ rise at ~139 ka BP caused by millennial-scale variabilities, which, along with increasing orbital solar radiation, prepare for the end of ice age.

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.

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).

Recent improvements in the indirect-drive inertial confinement fusion experiments include the achievement of burning plasma state. Here the authors report the scaling of neutron yield in a burning plasma of Deuterium-Tritium fusion reaction by including the mode-2 asymmetry.

In this Consensus Statement, a consortium of microbiome scientists discuss current sequencing data sharing policies and propose the use of a Data Reuse Information (DRI) tag to promote equitable and collaborative data sharing.

Upgrading wasted carbon emissions to high-value, multi-carbon products provides an economic route to reduce carbon dioxide levels, but such conversions have proven challenging. Here, authors explore copper adparticles as highly active surfaces that convert CO to n-propanol with high selectivities.

Data from over 700,000 individuals reveal the identity of 83 sequence variants that affect human height, implicating new candidate genes and pathways as being involved in growth.

Dimethyl fumarate (DMF) is an anti-inflammatory drug proposed as a treatment for COVID19. Here the results are reported from a randomised trial testing DMF treatment in 713 patients hospitalised with COVID-19. DMF was not associated with any improvement in day 5 outcomes.

The molecular alterations driving anti-androgen resistance in prostate cancer are unclear. Here, the authors show, using a network-based approach, that inhibition of the hexosamine biosynthetic pathway is necessary to develop resistance and that increasing the activity of the pathway enhances the anti-androgen response.

A highly scalable approach is used to generate 3,000 genome-wide maps of transcription factor binding in ten flowering plants, along with multi-species single-nucleus RNA-seq atlases. Together, the results reveal both ancient regulation and key regulatory adaptations.

Exome-wide analysis identifies rare and low-frequency coding variants associated with body mass index. Gene-based meta-analysis and functional studies implicate 13 genes, eight of which are novel, and neuronal pathways as factors in human obesity.

Ice sheet simulations which capture km-scale basal topography project a lower probability of high end sea level rise than coarser-scale models, according to a comparison of traditional models of the West Antarctic Ice Sheet with Gaussian process emulation.

This is the first report on a virus infecting the amoeboflagellate Naegleria, including the lethal human pathogen N. fowleri. The new virus isolate, Catovirus naegleriensis (Naegleriavirus, NiV), shows hallmarks of giant viruses (Nucleocytoviricota) and unique adaptations to its protist host.

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.

Circulating tumour DNA profiling in early-stage non-small-cell lung cancer can be used to track single-nucleotide variants in plasma to predict lung cancer relapse and identify tumour subclones involved in the metastatic process.

Severe summer aridification caused freshwater scarcity and the decline of Homo floresiensis and its prey at Liang Bua 61,000 years ago, as revealed by a rainfall record based on speleothem geochemical data from the island of Flores, Indonesia.

The South Atlantic Anomaly has the lowest intensity of the geomagnetic field. A stalagmite, from Brazil shows through its magnetic remanence that in mid-to-late Holocene this anomaly, was not being expressed or recurrent at surface in millennial scale.

Although biotech revenue and R&D spending continued to expand rapidly last year, profitability became a little more elusive.

Hydrothermal vents release significant quantities of dissolved iron into the oceans. Spectromicroscopic examination of a hydrothermal plume suggests that carbon-rich matrices protect this iron from oxidation and precipitation.

Mathieson et al. carried out a genome-wide association study of reproductive success (number of children born) in humans, revealing the importance of diverse neuro-endocrine and behavioural factors.

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.

While the genetic basis of heart failure has been explored by genetic studies, the differences between subtypes are not well understood. Here, the authors performed genetic analyses on the two major subtypes of heart failure in a large biobank with genetic and health record data, finding unique genetic architecture for each subtype.

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Although investors remained cautious of public biotech companies in 2005, acquisitions and research partnerships were on the up.

The cryo-EM structure of the human SAGA coactivator complex reveals high-resolution details of the core and TRRAP modules, providing insights on a metazoan-specific architecture and the structural basis for incorporation of the splicing module in mammalian cells.

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.

A cyclobutane compound competitively inhibits the activity of androgen receptors (AR) containing antiandrogen-resistant mutations through stabilization of the receptor in an apo-like conformation and preventing AR nuclear entry.