Genome variation, regulation, and interpretation resources
Human Genomics Team Leader
mfreeberg [at] ebi.ac.uk
ORCID: 0000-0003-2949-3921
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Ensembl data and tools to explore regions of the genome that differ between individual genomes (variants) and, where available, associated disease and phenotype information.
A service for permanent archiving and sharing of personally identifiable genetic, phenotypic, and clinical data generated in the context of biomedical research or research-focused healthcare systems.
An interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants and enhance clinical diagnosis by retrieving information from bioinformatics resources.
A ML-ready catalogue of harmonised and curated human gene, variant, and expression perturbation data (currently in beta).
A system that facilitates the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering.
A resource that maintains and shares human genetic variation resources developed by the 1000 Genomes Project.
DECIPHER enables the sharing of candidate diagnostic variants and phenotypic data from people with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. It aggregates up to date genomic and disease association data and provides tools to enable …
The EGA contains human data collected from research participants whose consent agreements authorise data release only to bona fide researchers and possibly for specific uses. Strict protocols govern how information is managed, stored and distributed by the EGA project. The EGA help desk provides ser…
Gene2Phenotype enables the curation and distribution of evidenced-base gene-disease associations from the literature, for use in diagnostic variant filtering. Detailed information on allelic requirement, mutational consequence and mechanism are captured with phenotypic terms, confidence level and ev…
The 1000 Genomes Project is a fully open resource consisting of nearly 2500 sequenced individuals from five major world populations (Europeans, East Asians, Amerians, Africans and South Asians). It is designed to capture and provide all common (>1%) genetic variation. Data is made freely and openly …
The Perturbation Catalogue stores high-quality, curated and harmonised datasets from human genomic perturbation studies. It includes diverse data modalities such as traditional CRISPR screens, CRISPR screens with single-cell transcriptomic readouts (such as Perturb-seq), and MAVE screens. The catalo…
bork EMBL and its community are deeply saddened by the death of Peer Bork, the organisation’s Interim Director General.
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As a core partner of the TREC expedition, EMBRC provides access to a vast network of marine stations across Europe, allowing researchers to study coastal and marine ecosystems at scale.
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Alumnus Norbert Kraut reflects on how his time at EMBL led to his successes in addressing hard-to-treat lung cancer.
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