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.

Guardado en:
Detalles Bibliográficos
Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
Q
Acceso en línea:https://doaj.org/article/1e05d841d70843dea427e050f3dbb928
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:1e05d841d70843dea427e050f3dbb928
record_format dspace
spelling 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)
institution DOAJ
collection DOAJ
language 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 AT vikaspejaver inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT jorgeurresti inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT joselugomartinez inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT kymberleighapagel inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT guanninglin inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT hyunjunnam inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT matthewmort inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT davidncooper inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT jonathansebat inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT liliamiakoucheva inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT seandmooney inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
AT predragradivojac inferringthemolecularandphenotypicimpactofaminoacidvariantswithmutpred2
_version_ 1718389737669001216