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Advances in genomic technologies have enabled investigations into a wide range of species. In this Review, the authors describe recent studies in both non-model and model organisms that illustrate the diversity of animal sex chromosomes with respect to their evolutionary histories and mechanistic roles in sex-determination systems.
Two studies in Nature reveal the mechanistic and structural properties of a family of mobile genetic elements that can be reprogrammed to engineer genome modifications.
RNA-binding proteins regulate the lifecycle of RNA, and their dysregulation is associated with diseases such as cancer and neurodegeneration. Using methods based on ultraviolet crosslinking followed by immunoprecipitation (CLIP), we can now begin to decode the mechanisms of the interactions between RNA-binding proteins and RNA. This Review discusses recent insights from and future applications of these methodologies.
In this Tools of the Trade article, Andrey Tvardovskiy and Saulius Lukauskas introduce the web resource MARCS, which offers a set of visualization tools to explore chromatin regulatory circuits from either a protein- or modification-centred perspective.
Single-cell, spatial and multi-omic profiling technologies generate large-scale data that reveal the output of genome-scale experiments across diverse cells, tissues and organisms. Cole Trapnell reviews the underlying core statistical challenges that need to be tackled to harness the power of these technologies and advance our understanding of gene function in health and disease.
In this Review, Pfeifer and Jin discuss currently available methods for genome-wide mapping of DNA damage and rare mutations and illustrate how these technologies are being used to study mechanisms of mutagenesis linked to the aetiology of human diseases.
In this Review, Pinto and Bhatt provide an overview of DNA-sequencing and RNA-sequencing approaches that can be used to study the composition, structure, and function of microbiomes and discuss the biological insights they provide.
Petrazzini et al. leverage exome sequencing data and a novel machine learning-based marker to identify rare and ultra-rare coding variants associated with coronary artery disease.
In this Review, Pamula and Lehmann describe how distinct membraneless germ granules organize the germ cell cytoplasm at different stages of the germline life cycle to determine germ cell identity, maintain genome integrity and regulate gamete differentiation.
Thirty years after the discovery and cloning of the cancer susceptibility gene BRCA1, William Foulkes reflects on this defining moment for breast and ovarian cancer genetics and how far the field has come.
In this Review, the authors summarize DNA packaging in bacteriophage, bacteria and eukaryotic cells. They describe the difficulties each system faces when packaging its DNA, outline the molecular motor components involved, and provide insights from new studies that reveal how DNA organization is achieved.
Filtering genomic data is a crucial step to ensure the quality and reliability of downstream analyses. The authors provide guidance on the choice of filtering strategies and thresholds, including filters that remove sequencing bases or reads, variants, loci, genotypes or individuals from genomic datasets to improve accuracy and reproducibility.
In this Journal Club article, Laura Ross discusses several seminal papers that describe the discovery of germline-specific chromosomes and paternal genome elimination, striking examples of non-Mendelian genetics.
In this Tools of the Trade article, Francisco Lorenzo-Martín and Matthias Lutolf present mini-colons as a new ex vivo cancer model that incorporates microfabrication, tissue engineering and optogenetics.
In this Tools of the Trade article, Saori Sakaue describes SCENT, a tool to generate cell-type-specific enhancer–gene maps using single-cell multi-omics data, which can help identify disease-causal, non-coding variants and genes from GWAS-defined loci.
Despite their impact on human complex traits and diseases, gene–environment interactions (G × E) remain challenging to assess statistically. The authors review considerations for the conceptualization, methodology, interpretation and reporting of G × E studies, and provide recommendations on how to avoid common pitfalls.
