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.
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 …
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…
EMBL Grenoble Data Scientist for AI Alana Sousa talks about how she went from analysing star formation to improving a machine learning tool for crystal identification in structural biology.
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At a recent EMBL conference, scientists shared research aimed at understanding the source of gender differences.
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A recent EMBO workshop brought together researchers who are expanding our understanding of how layers of genetic and epigenetic regulation underlie critical brain functions.
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