Predicting pathogenic protein variants

Science. 2023 Sep 22;381(6664):1284-1285. doi: 10.1126/science.adj8672. Epub 2023 Sep 19.

Authors

Joseph A Marsh¹, Sarah A Teichmann^{2

3}

Affiliations

¹ MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
² Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
³ Theory of Condensed Matter, Cavendish Laboratory, University of Cambridge, Cambridge, UK.

PMID: 37725046
DOI: 10.1126/science.adj8672

Abstract

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

MeSH terms

Algorithms
Disease* / genetics
Genetic Variation
Machine Learning*
Mutant Proteins* / chemistry
Mutant Proteins* / genetics
Mutation, Missense
Protein Conformation
Sequence Analysis, DNA / methods

Substances

Mutant Proteins