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Stuart Cook and colleagues study the role of TTN (titin)-truncating variants using a combination of heart physiology experiments in rats and genomic analysis in humans. Their data show that TTN variants are associated with a range of cardiac phenotypes in healthy individuals and in patients with dilated cardiomyopathy.

A national prospective study of patients requiring hospitalization for COVID-19 demonstrates global cognitive deficits at 1 year, associated with elevated brain injury markers and reduced gray matter volume.

Patricia Munroe, Christopher Newton-Cheh, Andrew Morris and colleagues perform association studies in over 340,000 individuals of European ancestry and identify 66 loci, of which 17 are novel, involved in blood pressure regulation. The risk SNPs are enriched for cis-regulatory elements, particularly in vascular endothelial cells.

Reduced glomerular filtration rate (eGFR) is a hallmark of chronic kidney disease. Here, Pattaro et al. conduct a meta-analysis to discover several new loci associated with variation in eGFR and find that genes associated with eGFR loci often encode proteins potentially related to kidney development.

The bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

Lipid concentration in the serum is one of the most important risk factors for coronary artery disease and can be targeted for therapeutic intervention. A genome-wide association study in >100,000 individuals of European ancestry now finds 95 significantly associated loci that also affect lipid traits in non-European populations. Among associated loci are those involved in cholesterol metabolism, known targets of cholesterol-lowering drugs and those that contribute to normal variation in lipid traits and to extreme lipid phenotypes.

We present genome-wide data from 64 subadults interred in Chichén Itzá around ad 500–900 that gives insight into burial rituals, and shows that their genomic legacy is still present and has adapted to immune challenges post-1492.

Oncolytic viruses create an inflamed tumour microenvironment allowing T cells to respond to immune checkpoint blockade therapy more efficiently. Authors here show that in a hepatocellular carcinoma model, a dominant anti-viral rather than anti-tumour T cell response is elicited by an oncolytic vesicular stomatitis virus, unless the virus is designed to express tumour antigens, which restores therapeutic benefit.

A dataset of 3D images from more than 200,000 human induced pluripotent stem cells is used to develop a framework to analyse cell shape and the location and organization of major intracellular structures.

The highlights of a year when microorganisms have proved more productive than ever for studying the genetic apparatus of cells have been the isolation and synthesis of DNA genes and the sequencing of RNA phage genes. First steps have been taken towards characterizing the enzymes which synthesize DNA and degrade RNA in bacterial cells. Protein synthesis in mammals is initiated in a way similar to bacteria; this supports the idea that the mechanisms of heredity are universal even in their details. A breakthrough in understanding the action of RNA tumour viruses has been the finding that they reverse the central dogma of molecular biology by directing synthesis of DNA.

Single-cell and spatial transcriptomic profiling of the human endometrium highlights pathways governing the proliferative and secretory phases of the menstrual cycle. Analyses of endometrial organoids show that WNT and NOTCH signaling modulate differentiation into the secretory and ciliated epithelial lineages, respectively.

JWST detections of Si, C and Fe absorption lines in a bright z = 9.31 galaxy with a two-component clump structure suggest that mergers contributed to the rapid build-up of mass and chemical enrichment soon after the Big Bang.

Industrial decarbonization poses both risks and benefits for communities. We show how community-based research can move pervasive yet nebulous calls for community engagement to processes that emphasize just and equitable governance.

Only 6 percent of US oil and natural gas production output is from low production well sites. Here the authors show that total methane emissions from these low producing well sites in the US is substantial, representing about one-half of all production site methane emissions.

Spirulina is used to manufacture a therapeutic antibody against campylobacter.

Profiling antibody responses to vast antigenic spaces has been challenging using programmable phage display (PhIP-Seq). Here, authors develop a methodology for compressing large proteomic spaces and have discovered human antibodies targeting gut bacteria-infecting phages.

Ancient mitochondrial DNA from sediments reveals the sequence of Denisovan, Neanderthal and faunal occupation of Denisova Cave, and evidence for the appearance of modern humans at least 45,000 years ago.

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.

Panic disorder is characterized by uncontrollable fear accompanied with unique somatic symptoms. Kang, Kim et al. identify a pontomesencephalic PACAP pathway that plays a crucial role in panic-like behavioral and physiological alterations in mice.

CLR01 is a molecular tweezer that inhibits protein aggregation. Here the authors show that CLR01 protects dopaminergic neurons in vitro and in vivo in human neurons and in mouse models showing potential as a disease-modifying therapy for Parkinson’s disease.

Post-traumatic stress disorder (PTSD) is a common mental health problem. Here, the authors report a GWAS from the Psychiatric Genomics Consortium in which they identify two risk loci in European ancestry and one locus in African ancestry individuals and find that PTSD is genetically correlated with several other psychiatric traits.

The authors summarize the data produced by phase III of the Encyclopedia of DNA Elements (ENCODE) project, a resource for better understanding of the human and mouse genomes.

The JWST, with the aid of gravitational lensing, confirms the extreme distance of an ultra-faint galaxy at a redshift of 9.79, showing it to have a luminosity typical of the sources responsible for cosmic reionization and highly compact and complex morphology.

A method for measuring oxygen abundances using optical and far-infrared emission lines provides absolute metallicities of the interstellar gas in Markarian 71 and could be applied across cosmic history.

This paper reports integrative molecular analyses of urothelial bladder carcinoma at the DNA, RNA, and protein levels performed as part of The Cancer Genome Atlas project; recurrent mutations were found in 32 genes, including those involved in cell-cycle regulation, chromatin regulation and kinase signalling pathways; chromatin regulatory genes were more frequently mutated in urothelial carcinoma than in any other common cancer studied so far.

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Genome-wide analyses identify multiple loci associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular (LV) traits. Cardiomyopathies exhibit strong genetic correlations with LV traits, with opposing effects in HCM and DCM.

Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and promoter long-range interactions.

This is an issue edsumm for ng1926. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.

Diet switching from high-fat to standard diet before influenza vaccination affects the metabolic state of T cells, restores their responses and improves vaccine efficacy in mice.

Information is physical, but the flow between information, energy and mechanics in chemical systems remains largely unexplored. Now, an autonomous molecular motor has been analysed with information thermodynamics, which relates information to other thermodynamic parameters. This treatment provides a general thermodynamic understanding of molecular motors, with practical implications for machine design.

Two below-threshold surface code memories on superconducting processors markedly reduce logical error rates, achieving high efficiency and real-time decoding, indicating potential for practical large-scale fault-tolerant quantum algorithms.

The palaeogenomic analysis of a pre-Neolithic skeleton associated with a Toalean burial context from Wallacea.