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In this Stage 2 Registered Report, Buchanan et al. show evidence confirming the phenomenon of semantic priming across speakers of 19 diverse languages.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

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.

Narcolepsy type 1 (NT1) is a severe sleep disorder with strong association to the HLA type DQB1*0602 and increased incidence among children vaccinated with the Influenza A vaccine Pandemrix. Here the authors show that these children develop T and B cell autoimmunity against protein-O-mannosyltransferase 1 via cross-reactivity.

A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

Biogenic sulfate production during the penultimate glacial period only modestly exceeded that in the following interglacial, indicating a balancing of dust-driven Subantarctic productivity increases and sea ice-driven high-latitude declines, according to an Antarctic ice core.

Trans-ancestry meta-analysis of estimated glomerular filtration rate (eGFR) from 1,046,070 individuals identifies 264 associated loci, providing a resource of molecular targets for translational research of chronic kidney disease.

Cardiovascular ageing is characterised by a progressive decline in function, which contributes to multi-morbidity. Here, the authors use machine learning to predict biological age and identify key genetic risk factors.

Urinary albumin-to-creatinine ratio (UCAR) is associated with various clinical outcomes such as kidney disease and cardiovascular disease. Here, the authors report genome-wide meta-analysis in over 500,000 individuals and find 68 UACR loci, followed by statistical fine-mapping, gene prioritization and experimental validation in flies.

Genome-wide association meta-analyses identify more than 350 loci associated with atrial fibrillation. A polygenic score derived from these results improves atrial fibrillation risk prediction compared to published clinical and polygenic scores.

Changes in brain structure asymmetry have been reported in autism spectrum disorder. Here the authors investigate this issue using a large-scale sample consisting of 54 data sets.

Both rare and common variants contribute to the aetiology of complex traits such as type 2 diabetes (T2D). Here, the authors examine the effect of coding variation on glycaemic traits and T2D, and identify low-frequency variation in GLP1Rsignificantly associated with these traits.

Patricia Munroe, Joanna Howson and colleagues genotype ∼350,000 individuals and identify 30 new blood pressure– or hypertension-associated risk loci. Their analyses provide insights into the pathophysiology of hypertension and highlight new potential targets for clinical intervention.

Segmented filamentous bacteria drive the acquisition of the T_H17 phenotype in an antigen-specific manner; these findings begin to elucidate how gut-induced T_H17 cells can contribute to distal organ-specific autoimmune disease.

Whole-exome sequencing in a large autism study identifies over 100 autosomal genes that are likely to affect risk for the disorder; these genes, which show unusual evolutionary constraint against mutations, carry de novo loss-of-function mutations in over 5% of autistic subjects and many function in synaptic, transcriptional and chromatin-remodelling pathways.

Aquatic CO₂ emissions are expected to increase if warming reduces photosynthesis relative to respiration. An analysis of streams across a 41 °C temperature gradient reveals that the thermal responses of respiration and photosynthesis are similar.

Adolescence is often associated with heightened reward learning and impulsivity. Here the authors show in 742 people aged 9-18 that reward learning in fact remains stable with age, whilst punishment learning increases and action initiation decreases.

Constructing the human reference atlas requires integration and analysis of massive amounts of data. Here the authors report the setup and results of the Hacking the Human Body machine learning algorithm development competition hosted by the Human Biomolecular Atlas and the Human Protein Atlas teams.

Analysis of rare protein-truncating, damaging missense and copy number variants from exome sequencing of 63,237 individuals identifies 72 genes associated with autism spectrum disorder.

A genome-wide association study for attention deficit/hyperactivity disorder (ADHD) identifies 12 loci and implicates neurodevelopmental pathways and conserved regions of the genome as being involved in underlying ADHD biology.

This study shows that glutathione, a ubiquitous antioxidant, is also a critical signalling molecule that allosterically activates the master virulence regulator in the intracellular pathogen Listeria monocytogenes.

In this Stage 2 Registered Report, Coles et al. present the results of a multicentre global adversarial collaboration on the facial feedback hypothesis.

Better analytical methods are needed to extract biological meaning from genome-wide association studies (GWAS) of psychiatric disorders. Here the authors take GWAS data from over 60,000 subjects, including patients with schizophrenia, bipolar disorder and major depression, and identify common etiological pathways shared amongst them.

Cristen Willer and colleagues report genome-wide association analyses for blood lipid levels in 188,578 individuals. They identify 62 loci newly associated with blood lipid levels, refine the association signals at 12 loci and examine associations with cardiovascular and metabolic traits.

Fungi from the genus Fusarium are important pathogens of animals and crop plants. Some have a wide host range, whereas others are more specific in the organisms they infect. Here, clues are provided as to how differences in specificity come about. The genomes of two Fusarium fungi with differing host ranges have been sequenced, and compared with the genome of a third species. Experiments show that transferring two whole chromosomes turns a non-pathogenic Fusarium strain into a pathogenic one.

The autism spectrum disorders are complex genetic traits characterized by various neurodevelopmental deficits. Here, the authors analyse defective gene family interaction networks in autism cases and healthy controls and identify potential gene family interactions that may contribute to autism aetiology.

Garry Cutting and colleagues report a genome-wide association and linkage study for loci that affect lung disease severity in cystic fibrosis. They identify two loci that influence lung function in individuals with cystic fibrosis.

Joanna Howson and colleagues perform a genome-wide association study and meta-analysis for coronary artery disease in large, trans-ancestry cohorts. They identify 15 new loci and correlate these regions with cell-type-specific gene expression and plasma protein levels to find novel pathways and potential mechanisms of disease.

Sekar Kathiresan and colleagues examine 185 common variants using a modified mendelian randomization approach and provide evidence supporting a causal role of triglyceride-rich lipoproteins in the development of coronary artery disease.

Müller et al. provide a comprehensive resource depicting cellular substrates, localization and interacting partners of RhoGEF and RhoGAP proteins regulating the canonical Rho family of GTPases.

The autistic spectrum disorders (ASDs) are highly heritable, yet the underlying genetic determinants remain largely unknown. Here, a genome-wide analysis of rare copy number variants (CNVs) has been carried out, revealing that ASD sufferers carry a higher load of rare, genic CNVs than do controls. Many of these CNVs are de novo and inherited. The results implicate several novel genes in ASDs, and point to the importance of cellular proliferation, projection and motility, as well as specific signalling pathways, in these disorders.

Hakon Hakonarson and colleagues report a genome-wide copy number variation study in 3,506 cases of attention-deficit hyperactivity disorder. The authors identify a statistically significant enrichment of CNVs impacting metabotropic glutamate receptor genes.

Addressing the hurdles and opportunities associated with omics research in low- and middle-income countries may inform strategies for its effective execution, and thus increase our ability to tackle health challenges that transcend geographical boundaries.

Cystic fibrosis is an inherited disorder involving dysfunction of the CFTR ion channel, affecting predominantly the lungs but also other organs. In this Primer, Mall and colleagues provide an update on the epidemiology, pathophysiology, diagnosis and treatment of the disease.

Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

Functional and transcriptomic comparison of primary neonatal, adult and ESC-derived astrocytes reveals major variations, highlighting the importance for an informed choice of astrocyte origin for research questions.

Autism is a highly heritable neurodevelopmental disorder, and yet few specific susceptibility genes have been identified to date. A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms is now described in a common set of 1,031 multiplex autism families. The linkage regions identified provide targets for rare variation screening whereas the discovery of a single novel association, SEMA5A, demonstrates the action of common variants.

Isotope data from polar firn and ice are used to constrain the increase in tropospheric ozone between 1850 and 2005 ad.