Structural variants (SVs) can strongly influence evolutionary processes by suppressing recombination to create jointly inherited regions and by altering gene expression and the 3D organization of DNA....

According to classic population genetics theory, recombination shapes the efficacy of natural selection. However, whether variation in recombination rate itself translates into meaningful differences ...

Genomic inversions spanning many genes can persist for millions of years. This study of Trinidadian guppy populations reveals how both ecological conditions and mate choice help maintain this hidden l...

Centromeres are critical for accurate segregation of chromosomes and are often composed of megabases of tandemly arranged satellite repeats. Yet, despite their conserved function, the DNA sequence of ...

Existing pedigree approaches to identifying de novo mutations (DNMs) require at least two parents and a single offspring, limiting applicability. Here, we introduce OOPS (Only One Parent Sequencing), ...

Abstract. Recombination diversifies offspring genomes and helps ensure chromosome segregation during meiosis. Mutation rates are elevated near crossovers d

Cheeto joined HPC@UCD as a stray scholar-in-residence and has since established himself as a permanent fixture of academic life. Although lacking a formal degree, he has consistently demonstrated exce...

Abstract. Understanding how and why genetic variation is maintained under sustained selection remains a central question in evolutionary genetics. Experime

Founder populations have played a pivotal role in human genetics, enabling the discovery of causal variants for disease and providing insight into population history and dynamics. The rapid expansion ...

Abstract. The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model pred

Abstract. Many long-standing questions in population genomics can now be addressed through comparative analyses and by leveraging the vast amount of genomi

As anthropogenic habitat fragmentation and population decline accelerate globally, growing numbers of species face compounding demographic and genetic threats to long-term survival. Many populations a...

Abstract. Habitat loss contributes to extinction risk in multiple ways. Genetically, small populations can face an ‘extinction vortex’—a positive feedback

Population declines result in increasingly small populations, which often experience an increase in inbreeding. Inbreeding may be negatively associated with fitness traits like survival and reproduct...

Nature Reviews Genetics - In this Comment, the authors argue that understanding the genetic basis of adaptation requires considering the genetic architecture and ecological properties of traits...

Writing is a huge part of any career in science, and for many writers – no, for most writers – it’s a daunting challenge. But it’s not a challenge that you have to tackle alone. That’s a lesson I w…

A greater genetic susceptibility has been proposed as an explanation of the greater rates of cardiovascular and metabolic disease in South Asian relative to European populations. We first demonstrate ...

Observed differences in mean phenotypic values across human groups have attracted renewed interest with the rise of large-scale genomic studies and polygenic risk prediction. However, the genetic basi...

People are born with variable numbers of de novo germline mutations (DNMs), depending primarily on the ages of their parents. To explore additional causes, we developed an approach to call DNMs from nucleotide differences between siblings in genomic regions inherited identical by descent from both parents. Applying it to whole genome sequences from 28,985 sibling pairs of diverse genetic ancestries present in the UK Biobank and All of Us datasets, as well as 2,330 trios, we identified >800K autosomal DNMs and characterized mutation phenotypes in 27,645 sets of parents. We found subtle shifts in the mutation spectrum but no differences in total DNM rates among genetic ancestry groups, or between smokers and non-smokers. Testing for associations between parental mutation phenotypes and their burden of loss-of-function and deleterious missense variants in a set of 180 DNA repair and maintenance genes, we discovered that disruptions in REV1 and LIG1 increase germline mutation rates, and thus that rare mutator alleles segregate in population cohorts. ### Competing Interest Statement The authors have declared no competing interest. NIH, R35 GM083098

Abstract. Ancestral recombination graphs (ARGs) are an attractive means for quantitative genetic analysis of complex traits because they encode the realize

The Neolithic Revolution marked an important shift from foraging to farming in human society. Here, the authors show that in Europe the spread of farming involved mostly within-group mating and limite...

Founder populations have played a pivotal role in human genetics, enabling the discovery of causal variants for disease and providing insight into population history and dynamics. The rapid expansion ...

Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Predicting the effect of a genetic mutation on fitness is a major challenge in evolutionary biology. This study uses fitness effects of a large collection of adaptive yeast mutants in multiple lab env...

Whole-genome sequencing (WGS) has greatly expanded researchers' ability to study structural variants (SVs), that is, the variation in the presence, number, orientation or position of a DNA sequence. ....

Proteins can affect traits through their interactions with one another. Here, the authors propose the COWAS method to identify pairs of interacting genes or proteins whose genetically regulated co-exp...