Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Identifying variants capable of causing genetic disease is challenging. The authors use semisupervised learning to predict pathogenic missense variants and their impacts on protein structure and function, enabling a molecular mechanism-driven approach to studying different types of human disease.
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Nature Portfolio
2020
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oai:doaj.org-article:1e05d841d70843dea427e050f3dbb9282021-12-02T14:42:16ZInferring the molecular and phenotypic impact of amino acid variants with MutPred210.1038/s41467-020-19669-x2041-1723https://doaj.org/article/1e05d841d70843dea427e050f3dbb9282020-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19669-xhttps://doaj.org/toc/2041-1723Identifying variants capable of causing genetic disease is challenging. The authors use semisupervised learning to predict pathogenic missense variants and their impacts on protein structure and function, enabling a molecular mechanism-driven approach to studying different types of human disease.Vikas PejaverJorge UrrestiJose Lugo-MartinezKymberleigh A. PagelGuan Ning LinHyun-Jun NamMatthew MortDavid N. CooperJonathan SebatLilia M. IakouchevaSean D. MooneyPredrag RadivojacNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020) |
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DOAJ |
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DOAJ |
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EN |
topic |
Science Q |
spellingShingle |
Science Q Vikas Pejaver Jorge Urresti Jose Lugo-Martinez Kymberleigh A. Pagel Guan Ning Lin Hyun-Jun Nam Matthew Mort David N. Cooper Jonathan Sebat Lilia M. Iakoucheva Sean D. Mooney Predrag Radivojac Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
description |
Identifying variants capable of causing genetic disease is challenging. The authors use semisupervised learning to predict pathogenic missense variants and their impacts on protein structure and function, enabling a molecular mechanism-driven approach to studying different types of human disease. |
format |
article |
author |
Vikas Pejaver Jorge Urresti Jose Lugo-Martinez Kymberleigh A. Pagel Guan Ning Lin Hyun-Jun Nam Matthew Mort David N. Cooper Jonathan Sebat Lilia M. Iakoucheva Sean D. Mooney Predrag Radivojac |
author_facet |
Vikas Pejaver Jorge Urresti Jose Lugo-Martinez Kymberleigh A. Pagel Guan Ning Lin Hyun-Jun Nam Matthew Mort David N. Cooper Jonathan Sebat Lilia M. Iakoucheva Sean D. Mooney Predrag Radivojac |
author_sort |
Vikas Pejaver |
title |
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
title_short |
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
title_full |
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
title_fullStr |
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
title_full_unstemmed |
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
title_sort |
inferring the molecular and phenotypic impact of amino acid variants with mutpred2 |
publisher |
Nature Portfolio |
publishDate |
2020 |
url |
https://doaj.org/article/1e05d841d70843dea427e050f3dbb928 |
work_keys_str_mv |
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1718389737669001216 |