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Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

The availability of longitudinal data in large biobanks is increasing. Here, using data from the UK Biobank, the authors develop and apply analytical approaches to quantify genetic contributions to change over time for traits like height and weight.

Analyses of height and body mass index in 119,000 sibling pairs show that linkage and genome-wide association signals colocalize. Further analyses suggest that family-based linkage signals are fully consistent with a highly polygenic architecture.

Assigning inter-individual similarities to genetic and non-genetic factors is central to quantitative genetics. Here, the authors look at phenotypic covariance among pairs of individuals for 32 traits across the UK Biobank, from nominally unrelated pairs through to monozygotic twins.

Dosage compensation (DC) on the X chromosome has predictable effects on genetic and phenotypic trait variance. Here, the authors use information for 20 quantitative traits in the UK Biobank and across-tissue gene expression to compare X-linked heritability and the effects of trait-associated SNPs between the sexes.

Methods to study how natural selection shapes genetic architecture of complex traits rely on individual level genome-wide association study (GWAS) data. Here, the authors present a Bayesian method using GWAS summary statistics to study genetic architecture and apply this to 155 complex traits.

To comprehend the genetic regulatory mechanisms underlying brain-related traits in humans, Qi et al. estimate the correlation of expression and DNA methylation QTL effects in cis between blood and brain and show that using blood eQTL/mQTL data of large sample size  can increase power in gene discovery for brain-related traits and diseases.

Vitamin D is a precursor of the steroid hormone 1,25-dihydroxyvitamin D3, and its deficiency is associated with many adverse health outcomes. Here, Revez et al. perform a genome-wide association study for circulating 25-hydroxyvitamin D in 417,580 individuals and test for potential causal relationships with other traits using Mendelian randomization.

GWAS have so far identified 129 loci associated with type 2 diabetes (T2D). Here, the authors meta-analyse three large T2D GWA studies which uncovers 42 additional loci, further prioritize 33 functional genes using eQTL and mQTL data and propose regulatory mechanisms for three putative T2D genes.

Gene discovery and polygenic predictions from a genome-wide association study of educational attainment in 1.1 million individuals.

Various approaches are being used for polygenic prediction including Bayesian multiple regression methods that require access to individual-level genotype data. Here, the authors extend BayesR to utilise GWAS summary statistics (SBayesR) and show that it outperforms other summary statistic-based methods.

Abdellaoui et al. examine the geographic distribution of human DNA differences in Great Britain, finding that the geographic distribution of polygenic scores for educational attainment and other complex traits resembles the geographic distribution of economic differences.

An understanding of the genetic variants associated with medication use may shed light on the underlying biological pathways of disease, and aid in drug development. Here, Wu and colleagues conduct a GWAS for self-reported medication-use in the UK Biobank, finding more than 500 independent variants and many promising leads for future work.

Male pattern baldness (MPB) is a polygenic trait that affects the majority of European men. Here, Yap et al. estimate heritability, partitioned by autosomes and the X-chromosome, of MPB in the UK Biobank cohort, perform GWAS for MPB and find genetic correlation with other sex-specific traits.

A century after being predicted by theory, the authors detect and quantify the genomic signature of assortative mating in ~400,000 contemporary human genomes, and report new genetic evidence for assortative mating on height and educational attainment.

This Perspective discusses approaches to generate ultimate genotypes, combining the best chromosome segments in livestock and crop populations, to increase key production, sustainability and welfare traits, compared with the current best individuals.

fastGWA is a mixed linear model–based approach for performing genome-wide association analyses at biobank scale, while controlling for population stratification and relatedness.

Bone stress injuries, commonly referred to as stress reactions or stress fractures, result from repeated overloading of bone and are thought to involve an imbalance in microdamage formation and repair. This Primer provides an overview of the epidemiology, pathobiology, risk factors, diagnostic approaches, treatments and consequences of bone stress injuries.