Active Genetics & Molecular Biology Plants, Animals & Ecology

Ensembl: A Comprehensive Reference Resource for Genomics

In plain English

AI plain-English summary

Ensembl, the world’s most comprehensive genome informatics resource, is overhauling its entire operation to keep pace with genomic medicine and the accelerating loss of biodiversity. For over twenty years, Ensembl has provided the foundational data, software, and expertise that scientists use to read and interpret genomes—from humans to crops to endangered species. But the volume of genomic data is exploding, and the current system cannot keep up. The human reference genome is moving from a single linear sequence to a graph-based structure that captures natural genetic diversity. Ensembl must adapt to that, while also expanding from supporting hundreds of genomes to tens of thousands, and releasing new annotations as fast as they are produced. If this overhaul succeeds, the impact will be largely invisible but essential. Clinicians diagnosing rare genetic diseases will have faster, more accurate reference data. Conservation biologists will gain tools to track genetic diversity across thousands of species simultaneously. Agricultural researchers will be able to compare crop genomes at unprecedented scale. The project is fundamentally about infrastructure—the digital scaffolding that makes modern genomics possible. Without it, the growing flood of genomic data would become unusable, slowing progress in medicine, conservation, and food security.

View original technical description
Ensembl is the world’s most comprehensive genome informatics resource. We have powered genomic analyses for over twenty years through our data, know-how, software and deep ties to the research community. Today, as genomic medicine is scaling up across the world and the effects of the sixth mass extinction become increasingly apparent, genomics has a critical role to play in addressing key societal challenges. To meet these challenges and stay relevant in a fast paced environment, we are preparing for landmark innovations in our processes, including (i) a transition to the graph-based human reference genome; (ii) an increased use of cutting-edge technologies including machine learning to more accurately annotate genomes; (iii) an expansion of the number of supported genomes from hundreds to tens of thousands; (iv) an extensive redevelopment of our comparative genomics infrastructure; (v) a complete overhaul of our release cycle to release data as quickly as we can annotate it; (vi) the launch of our new website; and (vii) the release of new APIs that will replace our Perl API for external users. Keywords: genome annotation, bioinformatics, database, biodiversity, functional interpretation of genetic variation, model organisms, genome regulation, agricultural genomics, FAIR data, open source software, open and reproducible science.

View the original record at the funder ↗

Researchers

Fergal Martin (EPMC Awardee)Freeberg (EPMC Awardee)Robert Finn (EPMC Awardee)

Related Research

Grants with similar aims, by meaning.

Ensembl - adding value to animal genomes through high quality annotation
Ensembl and enabling genetics and genomics research in farmed animal species
Ensembl genome portal for farm and companion animals
Ensembl in a new era - deep genome annotation of domesticated animal species and breeds
ProteoGenomics: Dynamic Linkage of Genomes and Proteomes through Ensembl and ProteomeXchange

Original classification

Strategic Support: Science

Plain English summaries and category classifications on this site are generated by AI and may not perfectly reflect the original research.