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A genome-wide study by the Long COVID Host Genetics Initiative identifies an association between the FOXP4 locus and long COVID, implicating altered lung function in its pathophysiology.

Generation and analysis of high-quality, genome assemblies from Middle Eastern trios demonstrate the utility of ancestry-matched data and assembly-based variation analysis.

What is the state of trust in scientists around the world? To answer this question, the authors surveyed 71,922 respondents in 68 countries and found that trust in scientists is moderately high.

Stereotactic needle biopsies are currently performed for diagnosis only in glioblastoma; this study highlights the depth of information available through multi-omics analysis.

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set to understand the most fundamental processes underlying human genetic variation.

Supervised deep learning models hold promise for the interpretation of histology images, but are limited by cost and quality of training datasets. Here, the authors develop a self-supervised deep learning method that can automatically discover features in cancer histology images that are associated with diagnosis, survival, and molecular phenotypes.

Self-supervised representation learning on data from imaging mass cytometry can be used to distinguish morphological differences in tumour microenvironments and to precisely characterize distinct microenvironment signatures.

It is unclear when multicellular animals first invaded the microscopic ecological niche between sediment grains given the absence of such animals from the fossil record. Microscopic Loriciferans are described from the Cambrian period, showing an early occupation of this important niche.

In this Review, the authors focus on the tight interaction between cardiac mechanics and mitochondrial energetics, discuss how this mechano-energetic coupling is disturbed in various acquired and inherited forms of heart failure, and summarize the established and emerging treatments for heart failure that target this mechano-energetic uncoupling.

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).

The authors uncover slow, facilitating inhibitory connections between serotonin neurons in the dorsal raphe, refuting autoinhibition theories. This recurrence drives winner-take-all effects and nonlinear processing of threat-related inputs.

A molecularly defined subset of somatostatin-positive inhibitory neurons in the mouse posterior parietal cortex carries a cell-type-specific error-correction signal for navigation.

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.

A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.

Immune lymphocyte estimation from nucleotide sequencing (ImmuneLENS) infers B cell and T cell fractions from whole-genome sequencing data. Applied to the 100,000 Genomes Project datasets, circulating T cell fraction provides sex-dependent and prognostic insights in patients.

Scanning transmission electron microscopy is a powerful material probe, but constrained to large atomic number samples due to the issues of beam damage and weak scattering. Here, Ophus et al.propose a method that produces linear phase contrast in a focused electron beam to image dose-sensitive objects.

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.

Early visual cortical responses increase with event duration and frequency, while later timing-tuned responses quantify event timing. Here, the authors show timing tuning gradually emerges up the visual hierarchy, and separates temporal and spatial event features.

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.

We find that if the thickness of a polycrystalline piezoceramic is reduced such that a large fraction of the grains are in the triaxial–biaxal crossover regime, the longitudinal strain is enhanced and the piezoceramic bends.

Analysis of 170 human genomes assembled using long-read sequencing provides a map of structural variation within regions of segmental duplication and identifies novel candidate protein-coding genes supported by full-length Iso-Seq reads.

Combining human proteome and transcriptome analyses and Mendelian randomization on a large genetic dataset of HFpEF and HFrEF cases, Rasooly et al. identified 58 potential therapeutic targets specific for either HEpEF or HFrEF and created their therapeutic target profiles.

Direct wavefront sensing with laser ‘guide stars’ is used in astronomy and microscopy to correct for optical aberrations. Wang et al.use near-infrared guide stars to extend this approach to the highly scattering mouse brain, allowing high-resolution fluorescence imaging at 700μm depth.

In a cohort of 50,556 South Asian individuals, partitioned polygenic scores helped identify genetic susceptibility to insulin deficiency and unfavorable fat distribution as key drivers of young-onset T2D diagnosis and faster progression to diabetes-related complications.

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

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.

Whole-genome sequencing of more than 2,000 colorectal carcinoma samples provides a highly detailed view of the genomic landscape of this cancer and identifies new driver mutations.

Here, the authors perform a large-scale meta-analysis of genome-wide association studies and cis-MR proteomics to identify protein biomarkers and drug targets for heart failure.

A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

Repeat expansion disorders are found in all major global populations, and their frequency is up to three times higher than typically quoted, suggesting underdiagnosis or incomplete penetrance.

Pixelation is common in quantum imaging systems and limit the image spatial resolution. Here, the authors introduce a pixel super-resolution approach based on measuring the full spatially-resolved joint probability distribution of spatially-entangled photons, and improve pixel resolution by a factor two.

Sun et al. report human lifespan changes in the brain’s functional connectome in 33,250 individuals, which highlights critical growth milestones and distinct maturation patterns and offers a normative reference for development, aging and diseases.

A combination of optogenetics and calcium imaging at the single-neuron level provides evidence for feature-specific competition among neurons in primary visual cortex.

Time-resolved X-ray scattering is utilized to demonstrate an ultrafast 300 ps topological phase transition to a skyrmionic phase. This transition is enabled by the formation of a transient topological fluctuation state.

A carbon nanotube sensor enables real-time optical quantification of hybridization events of microRNA and other oligonucleotides in vivo and in whole urine and serum.

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.