Nature Human Behaviour, Published online: 17 August 2026; doi:10.1038/s41562-026-02556-8Reconstructing parental haplotypes for up to 440,209 UK and Estonian Biobank participants, the authors estimate genetic assortative mating across 69 traits and find that assortment for height and education has intensified in recent generations.

Primary psychotic disorders (PPD) and bipolar disorder (BD) are characterised by recurrent episodes, long-term pharmacological treatment, and a strong polygenic component. Although clinical trials rem...

Author summary Over 90% of human genetic variants associated with human traits and diseases lie in non-coding regions of the genome, making it difficult to interpret the mechanisms by which these vari...

Abstract. Investigating the genetic architecture of complex diseases is challenging due to the multifactorial interplay of genomic and environmental influe

#LRUA26: Empower your research with long-read sequencing technologies and connect with experts, peers, and industry leaders in Uppsala this November.

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…

The September 25 release includes enhancer-gene data predicted by ENCODE-rE2G, molQTL credible sets for targets, new options for the variant structural viewer, and a number of data updates from GWAS C...

In the United States, the summer of 2025 will be remembered as artificial intelligence’s (AI’s) cruel summer—a season when the unheeded risks and dangers of AI became undeniably clear. Recent months h...

Background Understanding interindividual variability in medication dosing is central to precision medicine. Despite significant pharmacogenomic (PGx) insights into key biological pathways influencing ...

European Journal of Human Genetics - Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank

Spatially resolved transcriptomics is transforming our understanding of cellular and molecular diversity of tissues. Here, to identify tissue structures that are enriched for putatively causal disease...

A meta-prediction framework integrating polygenic risk scores spanning multiple conditions and nongenetic factors, such as laboratory tests and baseline diagnoses, had superior performance in predicti...

Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for r...

Despite significant pharmacogenomic (PGx) insights into key biological pathways influencing drug response, the polygenic contribution to dose variability and the potential of electronic health records...

This study provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.

Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,...

We lack tools to edit DNA sequences at scales necessary to study 99% of the human genome that is noncoding. To address this gap, we applied CRISPR prime editing to insert recombination handles into re...

Parent-of-origin effects (POEs) occur when the impact of a genetic variant depends on its parental origin. Traditionally linked to genomic imprinting, these effects are believed to have evolved from p...

The World Health Organization (WHO) has issued a set of principles for the ethical collection, access, use and sharing of human genomic data. Created with guidance from the WHO Technical Advisory Grou...