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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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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. |
format | Online Article Text |
id | pubmed-8293831 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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