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Structural variations (SVs) impact gene expression, genome stability and disease susceptibility. This Review discusses recent advances in genome-engineering tools that enable precise SV generation and highlights the challenges that remain.
This review describes evidence of multiple Denisovan populations, each with varying relatedness to Altai Denisovans, that introgressed into modern humans and highlights how introgression influenced human adaptation to a range of environments.
This Review discusses recurrent aneuploidies driving human cancer, methods to identify them and strategies to uncover underlying driver genes. It highlights genomic and experimental approaches to study and ultimately target driver aneuploidies.
This Review discusses gene regulatory networks in plants and their function across evolution and highlights how their manipulation with synthetic biology and gene editing can promote plant productivity in the face of climate change.
This Review explores the challenges and strategies for developing gapless telomere-to-telomere genome assemblies to enhance our understanding of genome organization and improve crops through genome-assisted breeding or gene editing.
This Review discusses emerging technologies and insights from mitochondrial DNA variant profiling obtained by single-cell multi-omics, demonstrating how the powerhouse of the cell may record clonal lineages and contribute to disease heterogeneity.
Genotype × environment interactions are a key mechanism underlying human phenotypic variation and contribute to our understanding of the genetic architecture of human traits, with possible applications in personalized medicine.
This Review explores mechanistic theories of aging, discusses challenges in establishing causality of these mechanisms and suggests that genetically informed investigation will help address this gap.