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In celebration of the 200th anniversary of Gregor Mendel’s birth, this Perspective discusses the historical context of Mendel’s discoveries and the importance of these insights in shaping the field of genetics.
Normal cellular processes can cause DNA breaks which become substrates for the cell’s DNA repair machinery. Focusing on neurons, this Perspective article explores the role of this ‘programmed’ DNA damage and its repair in health, ageing and neurodegenerative disease.
This Perspective explores the spatial and genomic mobility of extrachromosomal DNA within the cell and proposes how these properties may be harnessed for therapeutic benefit.
This Perspective discusses the analytical issues concerning heterogeneity and power encountered in microbial genome-wide association studies and highlights potential future directions for genetic analysis of the microbiome.
The UK Biobank Exome Sequencing Consortium aims to sequence all the exomes of approximately 500,000 UK Biobank participants. This Perspective describes the results from approximately 200,000 exomes and discusses the lessons learned from this UK Biobank–biopharmaceutical company collaboration.
Numerous statistical models have been used to analyze single-cell RNA sequencing data. This Perspective proposes that a Poisson measurement model is sufficient and suitably flexible for this task, and its use would resolve current controversies.
This Perspective on crop genomics discusses the promises of new technologies and approaches to help minimize food insecurity and to lay the foundation for sustainable agricultural systems needed to feed the world.
Recent technologies allow experimental manipulation of chromatin conformation. This Perspective discusses the insights obtained from gain-of-function studies that engineer the three-dimensional genome.
Recent progress relating to the catalytic and non-catalytic functions of histone modifying complexes warrants a fresh look at the role of histone modifications and the “histone code” model.
This Perspective explores the concept of tumor promotion and shows how carcinogenesis experiments performed decades ago in mice are remodeling the view of cancer initiation and prevention.
This Perspective discusses important aspects of data generation, infrastructure and management that affect how the research community uses medical data, including genetic and genomic information.
This Perspective discusses the need for mechanistic and quantitative understanding of the ecological and evolutionary dynamics of tumor growth to inform strategies for earlier detection, diagnosis and treatment of cancer.
Combining genomic data with CRISPR, hiPSC and organoid technologies provides platforms to study the complex genetic architectures of brain disease. These studies could improve genetic diagnosis, drive drug discovery and move the field toward precision medicine.
Recent advances in Hi-C, single-cell imaging and functional genetic studies warrant discussion on the functional relevance of topologically associating domains (TADs) and other classes of chromatin domains.
A Perspective on the future of agricultural genebank collections discusses how the use of molecular passport data can help facilitate genomic selection and accelerate crop breeding.
This Perspective discusses how best to interpret pLI, a measure widely used to identify genes that are intolerant to a single copy of a truncating mutation, by relating this and related measures to the underlying population-genetic theory.
Transcriptome-wide association studies (TWAS) prioritize candidate causal genes at GWAS loci. This Perspective discusses the challenges to TWAS analysis, caveats to interpretation of results and opportunities for improvements to this class of methods.
This Perspective discusses scientific and ethical considerations regarding the clinical use of polygenic risk scores, highlighting the pressing need to diversify cohorts for genetic studies beyond European-ancestry populations.
