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Past genome-wide associate studies have identified hundreds of genetic loci that influence body size and shape when examined one trait at a time. Here, Jeff and colleagues develop an aggregate score of various body traits, and use meta-analysis to find new loci linked to body shape.

Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disrupting uORFs.

The beta variant (B.1.351) is to date the most resistant to neutralization of the SARS-CoV-2 variants. Using nonhuman primates, Seder and colleagues demonstrate that double vaccination with a high dose of the lipid nanoparticle vaccine mRNA-1273 protects against infection with the beta variant.

A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.

A computational method for the systematic grafting of animal complementarity-determining regions onto thousands of human frameworks allows for the design of humanized versions of antibodies with improved stability.

A genome-wide association meta-analysis study here shows novel genetic loci to be associated to body fat percentage, and describes cross-phenotype association that further demonstrate a close relationship between adiposity and cardiovascular disease risk.

Photoelectrochemical performance is often hindered by sluggish charge transfer at the semiconductor interface. Here, the authors illustrate that a thin film coating made of a conductive metal-organic framework can improve the photovoltage of the underpinning semiconductors.

Previously documented record values of the fusion triple product in the stellarator Wendelstein 7-X are shown to be evidence for reduced neoclassical energy transport in this optimized device.

The T2K experiment constrains CP symmetry in neutrino oscillations, excluding 46% of possible values of the CP violating parameter at a significance of three standard deviations; this is an important milestone to test CP symmetry conservation in leptons and whether the Universe’s matter–antimatter imbalance originates from leptons.

The onset of seafloor spreading in the northern South China Sea was marked by the rapid onset of magmatism and mantle upwelling, suggests an analysis of International Ocean Discovery Program core material.

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Heart failure is a complex syndrome that is associated with many different underlying risk factors. Here, to increase power, the authors jointly analyse cases of heart failure of different aetiologies in a genome-wide association study and identify 11 loci of which ten had not been previously reported.

In this work, the authors transcriptionally and genetically profile 443 caudate nucleus samples, including 154 with schizophrenia, highlighting new genes associated with schizophrenia risk, including the presynaptic DRD2 isoform.

Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, the authors perform discovery GWAS for BP in East Asians and meta-analysis in East Asians and Europeans and report ancestry-specific BP SNPs and selection signals.

After infection with SARS-CoV-2, individuals show a greater reduction in grey matter thickness and tissue contrast in the orbitofrontal cortex and parahippocampal gyrus; greater changes in markers of tissue damage in regions that are functionally connected to the primary olfactory cortex; and a greater reduction in global brain size.

Lucas and colleagues describe loss-of-function variants in the X-linked ETS transcription factor ELF4 in multiple unrelated male patients with early onset mucosal autoinflammation and inflammatory bowel disease (IBD)-like features.

Holtzman and colleagues identify PARP9-DTX3L as an E3 ubiquitin ligase complex that interacts with STAT1 to modify chromatin accessibility for expression in interferon-stimulated genes and to target viral proteases for degradation.

Quantum correlations between the laser beams and the positions of the 40-kg mirrors of LIGO are confirmed experimentally, enabling high-precision measurements of both gravitational waves and macroscopic quantum states.

Genetic variation in ANGPTL4 is associated with lipid traits. Here, the authors find that predicted loss-of-function variants in ANGPTL4 are associated with glucose homeostasis and reduced risk of type 2 diabetes and that Angptl4^−/− mice on a high-fat diet show improved insulin sensitivity.

The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified.

Ground-based telescopes can in principle make high-resolution, wide-field observations when fitted with ground-layer adaptive optics (GLAO). These authors report observations of the core of the globular cluster M3 after a recent upgrade to their GLAO system. In natural seeing of 0.7″, the point spread function at 2.2-µm wavelength was sharpened to 0.3″ over a field of at least 2′. The wide-field resolution was enhanced by a factor of two to three over previous work, and extends to a wavelength of 1.2 ′m.

Genome-wide association analyses of DNA methylation in peripheral blood from 3,799 Europeans and 3,195 South Asians identify unique SNP–CpG associations (meQTL), providing insights into molecular mechanisms and the potential links to phenotypic variation.

Samuli Ripatti and colleagues report a genome-wide association study for human serum metabolites using NMR of serum samples from over 8,000 Finnish individuals. They identify 31 loci associated with at least one of 216 serum metabolic measures.

Vicinity of small bodies might be dangerous to the spacecrafts and to their instrumentation. Here the authors show the operational environment of asteroid Bennu, validate its photometric phase function and demonstrate the accelerating rotational rate due to YORP effect using the data acquired during the approach phase of OSIRIS-REx mission.

The notothenioid radiation is a remarkable group of fish adapted to life in the icy waters of the Southern Ocean. This study investigates the evolutionary history of this group and the basis of their adaption to cold environments through genomic analysis of 24 new genome assemblies.

Rhesus macaques are susceptible to oral challenge of human noroviruses and can be used as a model to recapitulate infection and adaptive immune responses in humans.

Multi-nucleotide variants (MNV) are genetic variants in close proximity of each other on the same haplotype whose functional impact is difficult to predict if they reside in the same codon. Here, Wang et al. use the gnomAD dataset to assemble a catalogue of MNVs and estimate their global mutation rate.

Many genetic factors that contribute to uterine leiomyomata (UL) - the most common tumours of the female genital tract - remain to be discovered. Here, the authors conduct a UL meta-genome-wide association study, and find loci related to altered muscle tissue biology that are associated with UL.

Samuli Ripatti and colleagues report the results of a genome-wide association study for circulating lipid levels based on 1000 Genomes Project imputation. Their results implicate several new loci, refine the association signals at many established loci and highlight the impact of low-frequency variants on lipid traits.

The genome of a western lowland gorilla has been sequenced and analysed, completing the genome sequences of all great ape genera, and providing evidence for parallel accelerated evolution in chimpanzee, gorilla and human lineages at a number of loci.

Metabolites are important indicators of the physiological state of the body and potential biomarkers for disease. Here, Draisma et al. use a genome-wide association study to identify novel single-nucleotide polymorphisms associated with blood metabolite levels in genes of pharmaceutical importance.

Langenau, Pinello and colleagues identify tumor-propagating stem cells in rhabdomyosarcoma that sustain tumorigenesis through integrated single-cell and functional characterization of patient-derived samples and preclinical models in vivo.

Type 2 diabetes (T2D) is a highly heterogeneous disease with a strong genetic component. Here the authors examine genome-wide methylation patterns in T2D-discordant, T2D-concordant and healthy concordant monozygotic twin pairs, and identify DNA methylation signals that may represent new biomarkers or drug targets for T2D.

If left unrepaired, meiotic DSBs are toxic to mammalian cells, thus oocytes in which DSBs persist are eliminated by the DNA-damage checkpoint. Here the authors provide insights into the roles of PUMA, NOXA and BAX during DNA damage checkpoint that eliminates Dmc1^−/− and Msh5^−/− oocytes.

1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.