Predicting pathogenic protein variants.

Journal: Science (New York, N.Y.)

Published Date: Sep 22, 2023

Abstract

Machine-learning algorithm uses structure prediction to spot disease-causing mutations.

Authors

Joseph A Marsh

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Sarah A Teichmann

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

Keywords

Algorithms Disease Genetic Variation Machine Learning Mutant Proteins Mutation, Missense Protein Conformation Sequence Analysis, DNA

External Resources

View on PubMed Access via DOI PubMed (37725046)

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