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SMuRF: portable and accurate ensemble prediction of somatic mutations

SUMMARY: Somatic Mutation calling method using a Random Forest (SMuRF) integrates predictions and auxiliary features from multiple somatic mutation callers using a supervised machine learning approach. SMuRF is trained on community-curated matched tumor and normal whole genome sequencing data. SMuRF...

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Autores principales: Huang, Weitai, Guo, Yu Amanda, Muthukumar, Karthik, Baruah, Probhonjon, Chang, Mei Mei, Jacobsen Skanderup, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735703/
https://www.ncbi.nlm.nih.gov/pubmed/30649191
http://dx.doi.org/10.1093/bioinformatics/btz018
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author Huang, Weitai
Guo, Yu Amanda
Muthukumar, Karthik
Baruah, Probhonjon
Chang, Mei Mei
Jacobsen Skanderup, Anders
author_facet Huang, Weitai
Guo, Yu Amanda
Muthukumar, Karthik
Baruah, Probhonjon
Chang, Mei Mei
Jacobsen Skanderup, Anders
author_sort Huang, Weitai
collection PubMed
description SUMMARY: Somatic Mutation calling method using a Random Forest (SMuRF) integrates predictions and auxiliary features from multiple somatic mutation callers using a supervised machine learning approach. SMuRF is trained on community-curated matched tumor and normal whole genome sequencing data. SMuRF predicts both SNVs and indels with high accuracy in genome or exome-level sequencing data. Furthermore, the method is robust across multiple tested cancer types and predicts low allele frequency variants with high accuracy. In contrast to existing ensemble-based somatic mutation calling approaches, SMuRF works out-of-the-box and is orders of magnitudes faster. AVAILABILITY AND IMPLEMENTATION: The method is implemented in R and available at https://github.com/skandlab/SMuRF. SMuRF operates as an add-on to the community-developed bcbio-nextgen somatic variant calling pipeline. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-67357032019-09-16 SMuRF: portable and accurate ensemble prediction of somatic mutations Huang, Weitai Guo, Yu Amanda Muthukumar, Karthik Baruah, Probhonjon Chang, Mei Mei Jacobsen Skanderup, Anders Bioinformatics Applications Notes SUMMARY: Somatic Mutation calling method using a Random Forest (SMuRF) integrates predictions and auxiliary features from multiple somatic mutation callers using a supervised machine learning approach. SMuRF is trained on community-curated matched tumor and normal whole genome sequencing data. SMuRF predicts both SNVs and indels with high accuracy in genome or exome-level sequencing data. Furthermore, the method is robust across multiple tested cancer types and predicts low allele frequency variants with high accuracy. In contrast to existing ensemble-based somatic mutation calling approaches, SMuRF works out-of-the-box and is orders of magnitudes faster. AVAILABILITY AND IMPLEMENTATION: The method is implemented in R and available at https://github.com/skandlab/SMuRF. SMuRF operates as an add-on to the community-developed bcbio-nextgen somatic variant calling pipeline. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2019-09-01 2019-01-12 /pmc/articles/PMC6735703/ /pubmed/30649191 http://dx.doi.org/10.1093/bioinformatics/btz018 Text en © The Author(s) 2019. Published by Oxford University Press. 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 Applications Notes
Huang, Weitai
Guo, Yu Amanda
Muthukumar, Karthik
Baruah, Probhonjon
Chang, Mei Mei
Jacobsen Skanderup, Anders
SMuRF: portable and accurate ensemble prediction of somatic mutations
title SMuRF: portable and accurate ensemble prediction of somatic mutations
title_full SMuRF: portable and accurate ensemble prediction of somatic mutations
title_fullStr SMuRF: portable and accurate ensemble prediction of somatic mutations
title_full_unstemmed SMuRF: portable and accurate ensemble prediction of somatic mutations
title_short SMuRF: portable and accurate ensemble prediction of somatic mutations
title_sort smurf: portable and accurate ensemble prediction of somatic mutations
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735703/
https://www.ncbi.nlm.nih.gov/pubmed/30649191
http://dx.doi.org/10.1093/bioinformatics/btz018
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