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Apoptotic cells often release extracellular vesicles that aid in their clearance and provide molecular information to cellular neighbours. Here, the authors show that some adherent apoptotic cells also create vesicles that remain attached at the site of death.

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Even though the pace of drug discovery is hotting up, many candidate drugs fail late in development. Caitlin Smith looks at some of the tools used early in drug discovery that could help improve the situation.

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

Proteins can be subjected to a wide variety of targeted post-translational modifications that will considerably modulate their function. Fortunately, several new technologies have emerged to assist in identification and analysis of these modifications, shedding new light on an important layer of proteomic complexity. Caitlin Smith reports.

Fluorescence-based reagents are quickly evolving to keep pace with the demands of many research disciplines that have grown to depend on them. Caitlin Smith takes a look at recent developments.

Here, the authors leverage whole-genome sequencing from >88,000 diverse individuals to uncover 18 BMI-related genetic signals, including novel variants in participants of African genetic ancestry, highlighting the value of diversity in genetic discovery.

An analysis of manuscript preparation guidelines across 541 ecology and evolution journals reveals widespread paucity in guidelines intended to make journal articles accessible to people with disabilities, underscoring an urgent need for journal policy reform.

Using data from a single time point, passenger-approximated clonal expansion rate (PACER) estimates the fitness of common driver mutations that lead to clonal haematopoiesis and identifies TCL1A activation as a mediator of clonal expansion.

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

If you want to silence a single gene with relative ease, look no further than RNA interference (RNAi). Fast becoming the knockdown method of choice in many systems, RNAi reagents such as commercial small inhibitory RNAs (siRNAs) and specialized media are now widely available to streamline your work. Caitlin Smith sizes up some of the new tools available for RNAi.

Automating the microscopy and imaging process simplifies the testing of large numbers of compounds or growth conditions, and the subsequent monitoring of many different phenotypic indicators, giving researchers the power to dramatically scale up their cell-based assays. Caitlin Smith and Michael Eisenstein report.

Insecticide treated nets (ITNs) are an important part of malaria control in Africa and WHO targets aim for 80% coverage. This study estimates the spatio-temporal access and use of ITNs in Africa from 2000-2020, and shows that both metrics have improved over time but access remains below WHO targets.

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.

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

Engineering the replication of target DNA through cloning, or changing its genetic code through mutations, are detail-oriented processes whose foibles can spell disaster. Caitlin Smith looks at some new tools and techniques that may smooth the road to a successful experiment.

MicroRNAs that tweak gene expression, single nucleotide polymorphisms in population genetics, and individual genome sequencing: Caitlin Smith takes a look at three fast-moving areas in genomics.

The route to new therapeutics often ends in costly failure. The secret of success is the rapid and accurate identification of drug targets with true potential, says Caitlin Smith.

The culture of animal cells is key to much of basic research today and an important starting point for therapeutic applications. But each cell type has its own quirks. Some cells are happy with most media and protocols, but others can become the bane of a scientist's existence with their seemingly inexplicable needs. Caitlin Smith reports.

Complete genome sequences have provided a plethora of potential drug targets. But the hard task of finding their weak spots is just beginning, as Caitlin Smith finds out.

Systemic blockade of CD47 showed promising results for treating atherosclerosis but induces anemia. Here, the authors show that macrophage-specific nanoparticles promoting efferocytosis reduce apoptotic cell accumulation and inflammation in a porcine model of atherosclerosis without causing anemia.

Exploratory post hoc analysis of molecular residual disease from the ADAURA trial of adjuvant osimertinib in patients with resected EGFR-mutated stage IB–IIIA non-small-cell lung cancer shows that molecular residual disease detection predicts disease recurrence with long-term adjuvant osimertinib treatment.

Although the common genetic variants contributing to blood lipid levels have been studied, the contribution of rare variants is less understood. Here, the authors perform a rare coding and noncoding variant association study of blood lipid levels using whole genome sequencing data.

A study shows that clonal haematopoiesis of indeterminate potential is associated with an increased risk of chronic liver disease specifically through the promotion of liver inflammation and injury.

From mutagenesis to gene therapy for hemophilia, transposons—mobile genetic elements—have proven themselves innovative tools in the laboratory and the clinic. Caitlin Smith takes a look at some present offerings of transposon products and the promise of applications.

A substantial bottleneck in working with proteins, both native and recombinant, is purifying the protein of interest efficiently, with a minimum of labor and cost. Recent advances in purification technology from many companies are making the protein scientist's job easier. Caitlin Smith reports.

Most studies of the genetics of the metabolome have been done in individuals of European descent. Here, the authors integrate genomics and metabolomics in Black individuals, highlighting the value of whole genome sequencing in diverse populations and linking circulating metabolites to human disease.

The affected cellular populations during Alzheimer’s disease progression remain understudied. Here the authors use a cohort of 84 donors, quantitative neuropathology and multimodal datasets from the BRAIN Initiative. Their pseudoprogression analysis revealed two disease phases.

Platelet aggregation is associated with myocardial infarction and stroke. Here, the authors have conducted a whole genome sequencing association study on platelet aggregation, discovering a locus in RGS18, where enhancer assays suggest an effect on activity of haematopoeitic lineage transcription factors.

Pooling participant-level genetic data into a single analysis can result in variance stratification, reducing statistical performance. Here, the authors develop variant-specific inflation factors to assess variance stratification and apply this to pooled individual-level data from whole genome sequencing.

A meta-analysis of peer-review data from over 300,000 biological sciences manuscripts reveals worse review outcomes for authors from historically excluded groups, and limited data evaluating the effectiveness of interventions to address bias in peer review.

GIANT, a genetically informed brain atlas, integrates genetic heritability with neuroanatomy. It shows strong neuroanatomical validity and surpasses traditional atlases in discovery power for brain imaging genomics.

Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both inherited and acquired mutations are linked to age-related cancers and coronary heart disease.

The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

To address the question of whether a recurrent tumour is genetically similar to the tumour at diagnosis, the evolution of medulloblastoma has been studied in both an in vivo mouse model of clinical tumour therapy as well as in humans with recurrent disease; targeted tumour therapies are usually based on targets present in the tumour at diagnosis but the results from this study indicate that post-treatment recurring tumours (compared with the tumour at diagnosis) have undergone substantial clonal divergence of the initial dominant tumour clone.

Analysing camera-trap data of 163 mammal species before and after the onset of COVID-19 lockdowns, the authors show that responses to human activity are dependent on the degree to which the landscape is modified by humans, with carnivores being especially sensitive.

Genome-wide analyses identify variants associated with sinus node dysfunction, distal conduction disease and pacemaker implantation, implicating ion channel function, cardiac developmental programs and sarcomeric structure in bradyarrhythmia susceptibility.

Herpes simplex virus type I and pseudorabies virus assimilate kinesin from host epithelial cells and repurpose the motor to traffic to the nuclei of neurons in the peripheral nervous system.

The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

Carey and colleagues reveal 35 major latent constructs (factors) in the phenotype data of unrelated individuals with predominantly estimated European genetic ancestry from UK Biobank.

Solid organ transplant recipients are at increased risk of infectious disease and have unique molecular pathophysiology. Here the authors use host-microbe profiling to assess SARS-CoV-2 infection and immunity in solid organ transplant recipients, showing enhanced viral abundance, impaired clearance, and increased expression of innate immunity genes.