Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Here we describe the establishment of the West African Genetic Medicine Centre in Ghana to help the country implement a World Health Assembly resolution to guide capacity building to address sickle-cell disease and other genetic disorders in Africa.
Genomic medicine can transform diagnosis and treatment, particularly in populations with high rates of inherited disorders. Here we describe the Genomic Medicine Center of Excellence at King Faisal Specialist Hospital & Research Centre, launched to strengthen Saudi genomic infrastructure and highlight lessons for underrepresented populations.
AI co-scientists can act as virtual research collaborators in statistical genetics, accelerating genetic discovery and translation. Realizing this potential depends on robust domain-specific data and infrastructures, together with interdisciplinary teamwork to build community standards that ensure rigor and responsible deployment.
The BioDIGS project is a nationwide initiative involving students, researchers and educators across more than 40 research and teaching institutions. Participants lead sample collection, computational analysis and results interpretation to understand the relationships between the soil microbiome, environment and health.
Amid growing geopolitical tension and scientific advances, fragmented and reactive governance policies could increase the risks of dual-use genomics, undermining international collaboration and data security. This Comment calls on the international genomics community to meet to establish robust, harmonized standards to safeguard genomic data.
The bankruptcy of 23andMe was an inflection point for the direct-to-consumer genetics market. Although the privacy of consumer data has been highlighted by many as a concern, we discuss another key tension in this case: the corporate enclosure of scientific data that has considerable potential value for biomedical research and public health.
To inform deliberations around use of the Human Genome Diversity Project (HGDP) and related legacy data, we conducted a literature review of HGDP-derived data use from 2010 to 2024. Our analysis suggests broad re-use, possibly inconsistent with the original consent understandings. We urge caution with use of those data and similar datasets of unclear provenance.
Gene implication methods (GIMs) are crucial tools for analyzing genome-wide association studies, but are often ambiguous. We present the LocusCompare2 platform to incorporate six popular GIMs and hundreds of quantitative trait loci datasets, enabling validation across several GIMs and window settings to improve accuracy and reproducibility.
We present the first federally funded Tribal data repository — the Data for Indigenous Implementations, Interventions, and Innovations Tribal Data Repository. This repository takes a revolutionary approach to data management by building space for researchers to engage with data from Indigenous groups under rigorous Tribal Nation governance and by prioritizing community data-sharing interests.
The scale and population coverage of Our Future Health, alongside other next-generation biobanks, offers unique opportunities to advance genomic medicine. Focusing on the UK context, we provide a researcher’s perspective of how this new resource could reach its full potential in a way that is impactful, user-friendly and informs related global efforts.
Despite Africa’s vast genetic diversity, its populations are underrepresented in global genomic datasets. Here we describe the vision of the KidneyGenAfrica, a pan-African initiative launched to address this inequity, and call for more inclusive genomics research that recognizes Africa’s key role in genetic variation and potential to generate insights in chronic kidney disease.
People with disabilities are under-represented in general (non-disability-specific) precision medicine research (PMR), limiting access to its benefits. We examine key reasons for this, focusing on the role of (dis)trust, and identify areas for further inquiry to guide researchers and enhance PMR’s trustworthiness for people with disabilities.
The rich ethnolinguistic and sociocultural differences that exist in India offers a unique opportunity to study human diversity. With the whole genomes of 10,000 healthy and unrelated Indians from 83 populations, the GenomeIndia project captures the genetic diversity of one of the highly underrepresented populations in the global genomics landscape.
In this era of rapidly expanding human genomics in research and healthcare, efficient data reuse is essential to maximize benefits for society. In response, the Federated European Genome–Phenome Archive (FEGA) was launched in 2022, and as of 2024, the FEGA network was composed of seven national nodes. Here we describe the complexities, challenges and achievements of FEGA, unravelling the dynamic interplay of regulatory frameworks, technical challenges and the shared vision of advancing genomic research.
This Comment outlines the creation of the Global Alliance for Spatial Technologies (GESTALT), a collaborative initiative aimed at fostering the growth and standardization of spatial tissue profiling technologies. It explores the need for GESTALT, its community-driven structure and its goals, spanning from the immediate to the long term.
Despite extensive advancements in cancer genetics in North America and Europe, the African continent remains underrepresented in this vital research area. Here we highlight a pioneering collaborative project in Kenya, with a focus on expanding cancer genetics services and research into retinoblastoma, a prototypical heritable cancer syndrome.
In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.
Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.
Polygenic scores (PGSs) have transformed human genetic research and have numerous potential clinical applications. Here we present a series of recent enhancements to the PGS Catalog and highlight the PGS Catalog Calculator, an open-source, scalable and portable pipeline for reproducibly calculating PGSs that democratizes equitable PGS applications.
R-loops contain DNA:RNA hybrids and an unpaired single-stranded DNA. N6-methyladenosine (m6A) has been reported to modulate R-loop levels, but with varying outcomes (R-loop resolution versus stabilization). We propose that in different contexts, m6A may either directly prevent R-loop accumulation or stabilize R-loops via the formation of RNA abasic sites.
