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LIST-S2: taxonomy based sorting of deleterious missense mutations across species

The separation of deleterious from benign mutations remains a key challenge in the interpretation of genomic data. Computational methods used to sort mutations based on their potential deleteriousness rely largely on conservation measures derived from sequence alignments. Here, we introduce LIST-S2,...

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Detalles Bibliográficos
Autores principales: Malhis, Nawar, Jacobson, Matthew, Jones, Steven J M, Gsponer, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319545/
https://www.ncbi.nlm.nih.gov/pubmed/32352516
http://dx.doi.org/10.1093/nar/gkaa288
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author Malhis, Nawar
Jacobson, Matthew
Jones, Steven J M
Gsponer, Jörg
author_facet Malhis, Nawar
Jacobson, Matthew
Jones, Steven J M
Gsponer, Jörg
author_sort Malhis, Nawar
collection PubMed
description The separation of deleterious from benign mutations remains a key challenge in the interpretation of genomic data. Computational methods used to sort mutations based on their potential deleteriousness rely largely on conservation measures derived from sequence alignments. Here, we introduce LIST-S2, a successor to our previously developed approach LIST, which aims to exploit local sequence identity and taxonomy distances in quantifying the conservation of human protein sequences. Unlike its predecessor, LIST-S2 is not limited to human sequences but can assess conservation and make predictions for sequences from any organism. Moreover, we provide a web-tool and downloadable software to compute and visualize the deleteriousness of mutations in user-provided sequences. This web-tool contains an HTML interface and a RESTful API to submit and manage sequences as well as a browsable set of precomputed predictions for a large number of UniProtKB protein sequences of common taxa. LIST-S2 is available at: https://list-s2.msl.ubc.ca/
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spelling pubmed-73195452020-07-01 LIST-S2: taxonomy based sorting of deleterious missense mutations across species Malhis, Nawar Jacobson, Matthew Jones, Steven J M Gsponer, Jörg Nucleic Acids Res Web Server Issue The separation of deleterious from benign mutations remains a key challenge in the interpretation of genomic data. Computational methods used to sort mutations based on their potential deleteriousness rely largely on conservation measures derived from sequence alignments. Here, we introduce LIST-S2, a successor to our previously developed approach LIST, which aims to exploit local sequence identity and taxonomy distances in quantifying the conservation of human protein sequences. Unlike its predecessor, LIST-S2 is not limited to human sequences but can assess conservation and make predictions for sequences from any organism. Moreover, we provide a web-tool and downloadable software to compute and visualize the deleteriousness of mutations in user-provided sequences. This web-tool contains an HTML interface and a RESTful API to submit and manage sequences as well as a browsable set of precomputed predictions for a large number of UniProtKB protein sequences of common taxa. LIST-S2 is available at: https://list-s2.msl.ubc.ca/ Oxford University Press 2020-07-02 2020-04-30 /pmc/articles/PMC7319545/ /pubmed/32352516 http://dx.doi.org/10.1093/nar/gkaa288 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Web Server Issue
Malhis, Nawar
Jacobson, Matthew
Jones, Steven J M
Gsponer, Jörg
LIST-S2: taxonomy based sorting of deleterious missense mutations across species
title LIST-S2: taxonomy based sorting of deleterious missense mutations across species
title_full LIST-S2: taxonomy based sorting of deleterious missense mutations across species
title_fullStr LIST-S2: taxonomy based sorting of deleterious missense mutations across species
title_full_unstemmed LIST-S2: taxonomy based sorting of deleterious missense mutations across species
title_short LIST-S2: taxonomy based sorting of deleterious missense mutations across species
title_sort list-s2: taxonomy based sorting of deleterious missense mutations across species
topic Web Server Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319545/
https://www.ncbi.nlm.nih.gov/pubmed/32352516
http://dx.doi.org/10.1093/nar/gkaa288
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