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Prediction of driver variants in the cancer genome via machine learning methodologies

Sequencing technologies have led to the identification of many variants in the human genome which could act as disease-drivers. As a consequence, a variety of bioinformatics tools have been proposed for predicting which variants may drive disease, and which may be causatively neutral. After briefly...

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Detalles Bibliográficos
Autores principales: Rogers, Mark F, Gaunt, Tom R, Campbell, Colin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293831/
https://www.ncbi.nlm.nih.gov/pubmed/33094325
http://dx.doi.org/10.1093/bib/bbaa250
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author Rogers, Mark F
Gaunt, Tom R
Campbell, Colin
author_facet Rogers, Mark F
Gaunt, Tom R
Campbell, Colin
author_sort Rogers, Mark F
collection PubMed
description Sequencing technologies have led to the identification of many variants in the human genome which could act as disease-drivers. As a consequence, a variety of bioinformatics tools have been proposed for predicting which variants may drive disease, and which may be causatively neutral. After briefly reviewing generic tools, we focus on a subset of these methods specifically geared toward predicting which variants in the human cancer genome may act as enablers of unregulated cell proliferation. We consider the resultant view of the cancer genome indicated by these predictors and discuss ways in which these types of prediction tools may be progressed by further research.
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spelling pubmed-82938312021-07-22 Prediction of driver variants in the cancer genome via machine learning methodologies Rogers, Mark F Gaunt, Tom R Campbell, Colin Brief Bioinform Method Review Sequencing technologies have led to the identification of many variants in the human genome which could act as disease-drivers. As a consequence, a variety of bioinformatics tools have been proposed for predicting which variants may drive disease, and which may be causatively neutral. After briefly reviewing generic tools, we focus on a subset of these methods specifically geared toward predicting which variants in the human cancer genome may act as enablers of unregulated cell proliferation. We consider the resultant view of the cancer genome indicated by these predictors and discuss ways in which these types of prediction tools may be progressed by further research. Oxford University Press 2020-10-22 /pmc/articles/PMC8293831/ /pubmed/33094325 http://dx.doi.org/10.1093/bib/bbaa250 Text en © The Author(s) 2020. Published by Oxford University Press. 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 Method Review
Rogers, Mark F
Gaunt, Tom R
Campbell, Colin
Prediction of driver variants in the cancer genome via machine learning methodologies
title Prediction of driver variants in the cancer genome via machine learning methodologies
title_full Prediction of driver variants in the cancer genome via machine learning methodologies
title_fullStr Prediction of driver variants in the cancer genome via machine learning methodologies
title_full_unstemmed Prediction of driver variants in the cancer genome via machine learning methodologies
title_short Prediction of driver variants in the cancer genome via machine learning methodologies
title_sort prediction of driver variants in the cancer genome via machine learning methodologies
topic Method Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293831/
https://www.ncbi.nlm.nih.gov/pubmed/33094325
http://dx.doi.org/10.1093/bib/bbaa250
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