Ensembl release 116 brings updated predictions to help interpret the potential impact of human genetic variants. By introducing two machine learning models and improving existing scores, this update makes it easier to explore and understand variant effects across the website.
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Integration of AlphaMissense scores into Ensembl
We’re excited to announce the integration of AlphaMissense pathogenicity scores into Ensembl! The display of AlphaMissense data in Ensembl and other EMBL-EBI resources aims to empower scientists to gain new insights, expand the exploration of genetic variation and the tolerance to change of different regions in proteins.
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