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Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.

The burden of mosaic chromosomal alterations in blood-derived DNA, a type of clonal hematopoiesis, is associated with an increased risk for diverse types of infections, including sepsis and pneumonia.

Safely reducing the necessary duration of quarantine for COVID-19 could lessen the economic impacts of the pandemic. Here, the authors demonstrate that testing on exit from quarantine is more effective than testing on entry, and can enable quarantine to be reduced from fourteen to seven days.

This study uses chromatin tracing to identify alterations in single-cell 3D genome conformation during the progression of Kras-driven mouse lung adenocarcinoma and pancreatic ductal adenocarcinoma, and proposes Rnf2 as a regulator of the 3D genome.

An efficient method for gene targeting in plants has been lacking until now, frustrating efforts to engineer crop plants. Here it is demonstrated that zinc-finger nucleases—enzymes engineered to create DNA double-strand breaks at specific loci—can be used for gene targeting, in this case inducing mutations that confer resistance to herbicides in tobacco plants.

Serological detection of antibodies against SARS-CoV-2 can help establish rates of seroconversion. Here the authors develop a red cell agglutination test to detect antibodies against the receptor binding domain for distribution free of charge to qualified research groups.

A high-resolution gene expression atlas of prenatal and postnatal brain development of rhesus monkey charts global transcriptional dynamics in relation to brain maturation, while comparative analysis reveals human-specific gene trajectories; candidate risk genes associated with human neurodevelopmental disorders tend to be co-expressed in disease-specific patterns in the developing monkey neocortex.

Similarities in cancers can be studied to interrogate their etiology. Here, the authors use genome-wide association study summary statistics from six cancer types based on 296,215 cases and 301,319 controls of European ancestry, showing that solid tumours arising from different tissues share a degree of common germline genetic basis.

A multiancestry genome-wide association study of chronic alanine aminotransferase elevation identifies candidate risk loci for nonalcoholic fatty liver disease, with replication in external cohorts defined by histology or imaging.

Germline variants that affect the expression or function of protein-coding regions of cancer genes are associated with cancer susceptibility. Here, the authors show that a larger number of germline variants are present in early-onset cancers, while acquired somatic mutations are prevalent in cancers that develop at older age.

Sera from vaccinated individuals and some monoclonal antibodies show a modest reduction in neutralizing activity against the B.1.1.7 variant of SARS-CoV-2; but the E484K substitution leads to a considerable loss of neutralizing activity.

Proteome analysis of The Cancer Genome Atlas (TCGA) colorectal cancer specimens reveals that DNA- or RNA-level measurements cannot reliably predict protein abundance, colorectal tumours can be separated into distinct proteotypes, and that copy number alterations drive mRNA abundance changes but few extend to protein-level changes.

The UK Biobank Exome Sequencing Consortium aims to sequence all the exomes of approximately 500,000 UK Biobank participants. This Perspective describes the results from approximately 200,000 exomes and discusses the lessons learned from this UK Biobank–biopharmaceutical company collaboration.

Three-dimensional simulations of massive star convection show that core-convection-driven gravity wave oscillations at the surface of the star are not the source of ‘red noise’ seen in photometric observations. The search for the source continues.

Chronic infection with SARS-CoV-2 leads to the emergence of viral variants that show reduced susceptibility to neutralizing antibodies in an immunosuppressed individual treated with convalescent plasma.

The authors define molecular mechanisms by which distinct domains of the ubiquitin editing enzyme A20 contribute to the regulation of inflammation and cell death.

Transcriptomic and proteomic profiling of blood samples from individuals with COVID-19 reveals immune cell and hematopoietic progenitor cell alterations that are differentially associated with disease severity.

Until recently gadolinium chelates were thought to be safe when used as contrast agents for MRI. These compounds are now known to be associated with artifactual results of laboratory tests, acute kidney injury and nephrogenic systemic fibrosis, complications that seem to exclusively affect people with impaired renal function. Penfield and Reilly provide the information that physicians need to determine the relative risks and benefits of administering gadolinium to patients with chronic kidney disease.

Early and prolonged administration of antiretroviral therapy to SIV-infected and post-exposure-vaccinated rhesus macaques was associated with absence or delay of detectable virus after therapy interruption.

Genetic engineering in plants remains laborious and time consuming, with no precise genetic engineering methods comparable to those available in animal models. A new approach that relies on the use of designed zinc-finger nucleases is showcased here in maize, inducing herbicide tolerance that is stably inherited.

Temperate and tropical rivers serve as a substantial source of carbon dioxide to the atmosphere. Organic matter measurements in the Amazon River suggest that terrestrial macromolecules contribute significantly to this outgassing.

Wells et al. use mathematical modeling to compare quarantine duration, testing frequency, and false-positive rate for 18 rapid antigen (RA) and RT-PCR tests. They show that the relative effectiveness of RA and RT-PCR tests in reducing post-quarantine transmission depends on the quarantine duration, the timing of their use in the infection time course, and the turnaround time of test results.

A phylogeny of birds is presented from targeted genomic sequencing of 198 species of living birds representing all major avian lineages; the results find five major clades forming successive sister taxa to the rest of Neoaves and do not support the recently proposed Neoavian clades of Columbea and Passerea.

Cellular immune responses in rhesus macaques (Macaca mulatta) vaccinated with cytomegalovirus vectors expressing SIV proteins are able to stringently control highly pathogenic SIV infection, regardless of the route of challenge, after systemic spread; immunological and virological analyses of protected macaques followed for up to 3 years suggest that persistent immune surveillance by vaccine-elicited immune responses may have cleared the infection.