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This Perspective discusses the definitions of ‘broad’ that have been used in the context of sharing of human genomic data and proposes a clarified and reformed terminology for describing genomic data sharing more precisely.
This Perspective discusses approaches to generate ultimate genotypes, combining the best chromosome segments in livestock and crop populations, to increase key production, sustainability and welfare traits, compared with the current best individuals.
Here we describe an open collaborative effort termed the ‘Ruminant T2T Consortium’. It aims to generate complete diploid assemblies for many species of ruminants to examine chromosomal evolution in the context of natural selection and domestication.
The clinical use of current polygenic risk scores (PRSs) might widen global health disparities, as their portability to diverse groups is limited, emphasizing the need for global collaboration to develop PRSs that perform equitably across the world.
This Perspective explores challenges in calculating the penetrance of monogenic disease-associated variants in the context of large-scale population sequencing cohorts.
The African BioGenome Project (AfricaBP) Open Institute for Genomics and Bioinformatics established a series of regional workshops in 2023 to exchange knowledge and overcome barriers, which could serve as a model for other scientific communities.
Infant genetic research is currently underexplored but, as highlighted in this Perspective, has the potential to impact basic science and affect educational policy, public health and clinical practice.
Kaiser et al. propose a nuanced and inclusive definition of genetic discrimination that reflects its multifaceted impact. This adaptive definition is intended to remain relevant in the face of an evolving social context and advancing genomic science.
Integrating human pluripotent stem cell models with population genetics and cellular genomics can help elucidate functional mechanisms underlying complex disease risk loci and uncover relationships between common genetic variation and pharmacotherapeutic phenotypes.
This Perspective article explores complex synthetic lethal relationships in cancer, which can involve several partners. Understanding this complexity presents challenges and opportunities for the development of therapeutics that target these interactions.
This Perspective article discusses Singapore’s efforts to implement a National Precision Medicine Strategy through the integration of genomic, clinical and lifestyle data of up to one million Singaporean individuals.
This Perspective addresses next steps to investigate the predictions that inhibition of APOBEC3-mediated mutagenesis may limit tumor heterogeneity, metastasis and drug resistance in a broad range of cancer types by highlighting gaps in our understanding of APOBEC3 biology in cancer and in healthy tissues and strategies to address them.
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.
