Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the par...

While both common and rare variants contribute to the genetic etiology of complex traits, whether their impacts manifest through the same effector genes and molecular mechanisms is not well understood...

Nature Reviews Genetics, Published online: 16 June 2025; doi:10.1038/s41576-025-00866-7Hakhamanesh Mostafavi recalls a landmark paper by Boyle et al. on the omnigenic model, which proposed that complex traits are influenced by thousands of genes across the genome, including many that are only indirectly related to a trait through regulatory networks.

Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...

Purpose Genomic sequencing offers the opportunity to screen for hundreds of rare genetic conditions with a single test. To minimise potential negative impact on families and clinical services, it is c...

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,...

AbstractSTUDY QUESTION. What is the comparative load and profile of hereditary cancer–linked germline variants in infertile compared to fertile men?SUMMARY

Nature Genetics - Rare variant association analysis of plasma proteins using whole-genome sequencing data in 54,306 individuals in the UK Biobank demonstrates that combining both single-variant and...

The dictum “Everything should be made as simple as possible, but no simpler” poses a problem for biology. How simply can it be told without doing damage to its complex nature? The answer might be foun...

Conflicts between levels of biological organization are central to evolution, from populations of multicellular organisms to selfish genetic elements in microbes. Plasmids are extrachromosomal, self-r...

Computational HLA typing has surged as a cost-effective strategy to uncover questions regarding the evolution of the HLA system, enabling immunogenic characterization from ancient DNA (aDNA) data. Nev...

Assistant/Associate Professor in Computational Biology in the Department of Applied Mathematics and Theoretical Physics at the University of Cambridge.

Based on a systematic analysis of environmental exposures associated with aging and mortality in the UK Biobank, the relative contributions of such exposures and genetic risk for mortality and a range...

Any variant associated with either numerator or denominator will associate with the ratio in GWAS of sufficient size. Associations with ratio traits are thus not specific to the ratio. Instead, we rec...

The new website of the Ensembl project

The idea that evolution is driven by an organism’s development — not just the natural selection of its genes — challenges a dearly held orthodoxy among evolutionary biologists.

Background: Birth weight is considered as an important indicator of environmental conditions during