AlphaMissense data integrated into Ensembl, UniProt, DECIPHER and AlphaFold DB
The integration enables researchers to easily access AI-generated scores estimating how likely genetic variants are to be pathogenic
2024
technology-and-innovation
New predictions of genetic variant pathogenicity using AlphaFold protein structures
Ensembl Variant Effect Predictor integrates Google DeepMind’s new AlphaMissense Database for better predictions of genetic variant pathogenicity.
SCIENCE & TECHNOLOGY2023
science-technologytechnology-and-innovation
refget v2.0 links the hidden dictionaries of DNA
The GA4GH standard refget quietly helps decipher millions of genomes sequenced worldwide, and it just got better.
2023
technology-and-innovation
Ensembl 110 has been released
Ensembl 100 release brings exciting updates, such as the addition of regulation data to 5 animal genomes studied extensively in agriculture.
2023
updates-from-data-resources
Genomic medicine: ushering in a new era in healthcare
EMBL-EBI data resources are being used to deliver thousands of genetic diagnostics to patients every month.
SCIENCE & TECHNOLOGY2023
perspectivessciencescience-technology
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