Search

In a cluster-randomized trial conducted across 70 medical centers in six countries, a 16-week structured educational program for healthcare providers improved adherence to guidelines for rhythm control but not for stroke prevention in individuals with atrial fibrillation.

This large integrated analysis of the KRAS^G12C inhibitor sotorasib clinical efficacy biomarkers from the phase 2 CodeBreaK 100 and phase 3 CodeBreaK 200 trials shows that low expression of TTF-1 and high expression of NRF2 determine anti-tumor efficacy of sotorasib in non–small-cell lung cancer.

Polygenic risk scores for Alzheimer’s disease derived from individuals of European ancestry can show improved performance in multiancestry settings after incorporating genome-wide association summary statistics from diverse populations.

Known genetic loci account for only a fraction of the genetic contribution to Alzheimer’s disease. Here, the authors have performed a large genome-wide meta-analysis comprising 409,435 individuals to discover 6 new loci and demonstrate the efficacy of an Alzheimer’s disease polygenic risk score.

Haifan Lin, Jamy Peng and colleagues report that the Drosophila Piwi protein is a negative regulator of PRC2 in the fly ovary, a function required for the maintenance of germline stem cells. Their results indicate that Piwi sequesters PRC2 in the nucleoplasm, thereby reducing genome-wide levels of H3K27me3.

Madrer et al. identify a Parkinson’s disease–specific increase in transfer RNA (tRNA) fragments in human blood, cerebrospinal fluid and postmortem brain tissue, demonstrating the ability of blood-based tRNA fragment quantification to distinguish between pre-symptomatic patients and healthy controls.

In animals, microRNAs (miRNAs) are ∼22 nucleotides in length and are produced by two RNase III proteins — Drosha and Dicer. Their biogenesis is regulated at multiple levels, including at the level of miRNA transcription; by Drosha and Dicer processing; by their modification through RNA editing, RNA methylation, uridylation and adenylation; Argonaute loading; and by RNA decay.

Using a globally distributed standardized aerial sampling of fungal spores, we show that the hyperdiverse kingdom of fungi follows globally highly predictable spatial and temporal dynamics, with seasonality in both species richness and community composition increasing with latitude.

Closely related plant species can have drastically different abundances of transposable elements. Now it is shown that the genome of Arabis alpina has experienced a striking expansion of retrotransposons, probably shaped by reduced DNA methylation.

Mutations in condensin subunits cause microcephaly, but the underlying molecular mechanisms remain elusive. Here, the authors show that unrestricted retrotransposable element activity impairs brain development in condensin insufficient organisms.

miRNAs typically bind to target mRNAs to induce their degradation but when base-pairing between miRNAs and the target RNAs are extended, miRNAs themselves can be degraded. Here, by employing AGO1-CLASH in Drosophila cells, the authors show that RNA sequence in AGO1 mRNA 3′UTR induces decay of miR-999.

The spin–orbit interaction can be used to optically generate and control terahertz electric photocurrents in metallic ferromagnetic heterostructures.

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.

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.

Here, using a dynamic modelling approach, the authors find that the spread of dengue through Mexico and Brazil is shaped by specific interactions between human mobility, climate, and the environment. Their models can also be applied to predict future spread in these geographic areas.

The worldwide distribution and water supply of water towers (snowy or glacierized mountain ranges) is indexed, showing that the most important water towers are also the most vulnerable to socio-economic and climate-change stresses, with huge potential negative impacts on populations downstream.

FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.

Petrels are wide-ranging, highly threatened seabirds that often ingest plastic. This study used tracking data for 7,137 petrels of 77 species to map global exposure risk and compare regions, species, and populations. The results show higher exposure risk for threatened species and stress the need for international cooperation to tackle marine litter.

Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male germ cell pre-mRNA splicing.

Paz Polak, Jaegil Kim, Lior Z. Braunstein and colleagues have identified patterns of genome-wide mutation in certain breast cancers that can be used to identify those with DNA-repair deficiencies that make the tumor more likely to respond to therapies based on PARP inhibitors or platinum. In contrast, oncogenic mutations in several other DNA-repair genes do not generate these patterns.

An analysis of the largest exome sequencing dataset of people with obsessive–compulsive disorder to date (n = 1,313 affected individuals), where both case–control and de novo variant studies support a contribution of rare damaging coding variants to risk.

The impacts of armed conflict on biodiversity have long been neglected. A United Nations meeting hosted by Colombia is a golden opportunity to begin changing that.

In insects, Y chromosome-linked male determining factor can determine sex, but the sex determination factor of the Oriental Fruit fly is unknown. Here the authors show that an autosomal-derived miR-1-3p is enriched in males, suppressing the expression of Bdtra, which is required for female sex determination.

MRI data from more than 100 studies have been aggregated to yield new insights about brain development and ageing, and create an interactive open resource for comparison of brain structures throughout the human lifespan, including those associated with neurological and psychiatric disorders.

The second Global Amphibian Assessment finds that the status of amphibians is continuing to deteriorate globally, driven predominantly by climate change, disease and habitat loss.

Records of biogenic opal export in the North Atlantic Ocean show pronounced maxima during each glacial termination over the past 550,000 years, consistent with a strong deglacial reduction in the formation of silicate-poor glacial North Atlantic intermediate water and a consequent increase in upward silicate transport.

Mexican scientists now have the skills and technology to study their backlog of ancient bones. As this treasure trove begins to yield its secrets, Rex Dalton finds local scientists hoping to unravel the mysteries of the earliest settlers of America.

Asian soybean rust caused by Phakopsora pachyrhizi is an important plant pathogen, but an accurate genome assembly for this fungus has been lacking. This study sequenced three independent P. pachyrhizi isolates and generated reference quality assemblies and genome annotations, representing a critical step for further in-depth studies of this pathogen and the development of new methods of control.

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