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P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants

MOTIVATION: Genomic data are prevalent, leading to frequent encounters with uninterpreted variants or mutations with unknown mechanisms of effect. Researchers must manually aggregate data from multiple sources and across related proteins, mentally translating effects between the genome and proteome,...

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Autores principales: DeVoe, Elias, Oliver, Gavin R, Zenka, Roman, Blackburn, Patrick R, Cousin, Margot A, Boczek, Nicole J, Kocher, Jean-Pierre A, Urrutia, Raul, Klee, Eric W, Zimmermann, Michael T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346652/
https://www.ncbi.nlm.nih.gov/pubmed/34377961
http://dx.doi.org/10.1093/jamiaopen/ooab065
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author DeVoe, Elias
Oliver, Gavin R
Zenka, Roman
Blackburn, Patrick R
Cousin, Margot A
Boczek, Nicole J
Kocher, Jean-Pierre A
Urrutia, Raul
Klee, Eric W
Zimmermann, Michael T
author_facet DeVoe, Elias
Oliver, Gavin R
Zenka, Roman
Blackburn, Patrick R
Cousin, Margot A
Boczek, Nicole J
Kocher, Jean-Pierre A
Urrutia, Raul
Klee, Eric W
Zimmermann, Michael T
author_sort DeVoe, Elias
collection PubMed
description MOTIVATION: Genomic data are prevalent, leading to frequent encounters with uninterpreted variants or mutations with unknown mechanisms of effect. Researchers must manually aggregate data from multiple sources and across related proteins, mentally translating effects between the genome and proteome, to attempt to understand mechanisms. MATERIALS AND METHODS: P(2)T(2) presents diverse data and annotation types in a unified protein-centric view, facilitating the interpretation of coding variants and hypothesis generation. Information from primary sequence, domain, motif, and structural levels are presented and also organized into the first Paralog Annotation Analysis across the human proteome. RESULTS: Our tool assists research efforts to interpret genomic variation by aggregating diverse, relevant, and proteome-wide information into a unified interactive web-based interface. Additionally, we provide a REST API enabling automated data queries, or repurposing data for other studies. CONCLUSION: The unified protein-centric interface presented in P(2)T(2) will help researchers interpret novel variants identified through next-generation sequencing. Code and server link available at github.com/GenomicInterpretation/p2t2.
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spelling pubmed-83466522021-08-09 P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants DeVoe, Elias Oliver, Gavin R Zenka, Roman Blackburn, Patrick R Cousin, Margot A Boczek, Nicole J Kocher, Jean-Pierre A Urrutia, Raul Klee, Eric W Zimmermann, Michael T JAMIA Open Application Notes MOTIVATION: Genomic data are prevalent, leading to frequent encounters with uninterpreted variants or mutations with unknown mechanisms of effect. Researchers must manually aggregate data from multiple sources and across related proteins, mentally translating effects between the genome and proteome, to attempt to understand mechanisms. MATERIALS AND METHODS: P(2)T(2) presents diverse data and annotation types in a unified protein-centric view, facilitating the interpretation of coding variants and hypothesis generation. Information from primary sequence, domain, motif, and structural levels are presented and also organized into the first Paralog Annotation Analysis across the human proteome. RESULTS: Our tool assists research efforts to interpret genomic variation by aggregating diverse, relevant, and proteome-wide information into a unified interactive web-based interface. Additionally, we provide a REST API enabling automated data queries, or repurposing data for other studies. CONCLUSION: The unified protein-centric interface presented in P(2)T(2) will help researchers interpret novel variants identified through next-generation sequencing. Code and server link available at github.com/GenomicInterpretation/p2t2. Oxford University Press 2021-08-07 /pmc/articles/PMC8346652/ /pubmed/34377961 http://dx.doi.org/10.1093/jamiaopen/ooab065 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the American Medical Informatics Association. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Application Notes
DeVoe, Elias
Oliver, Gavin R
Zenka, Roman
Blackburn, Patrick R
Cousin, Margot A
Boczek, Nicole J
Kocher, Jean-Pierre A
Urrutia, Raul
Klee, Eric W
Zimmermann, Michael T
P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
title P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
title_full P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
title_fullStr P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
title_full_unstemmed P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
title_short P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
title_sort p(2)t(2): protein panoramic annotation tool for the interpretation of protein coding genetic variants
topic Application Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346652/
https://www.ncbi.nlm.nih.gov/pubmed/34377961
http://dx.doi.org/10.1093/jamiaopen/ooab065
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