Genome variation, regulation, and interpretation resources
Human Genomics Team Leader
mfreeberg [at] ebi.ac.uk
ORCID: 0000-0003-2949-3921
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Data and tools – including Ensembl VEP – 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 standards setting and policy framing organisation working to expand genomic data use within a human rights framework.
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.
DGVa is a central archive that receives data from, and distributes data to, a number of resources. The DGVa accepts direct submissions from researchers and accession numbers for data objects included in these are given the prefix ‘e’. The DGVa also exchanges data on a regular basis with dbVar (a pee…
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…
The European”>https://www.ebi.ac.uk/eva/”>Europeanhttps://www.ebi.ac.uk/eva/”>European”>https://www.ebi.ac.uk/eva/&…; Variation Archive is an open-access database of all types of genetic variation data, from all species. The EVA provides access to highly detailed, granular, raw variant data fro…
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 …
New ‘teaming’ projects in genomic medicine and wastewater monitoring will serve important research needs in Portugal and Latvia.
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EMBL alumna Lisa Maier, recipient of the 2026 John Kendrew Award, discusses her scientific achievements, the importance of science engagement, and how she carries on the ‘EMBL spirit’
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Researchers use synthetic biology approaches to test hundreds of DNA sequences for their effect on regulating gene expression.
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