Cargando…
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...
Autores principales: | , , , , , |
---|---|
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 |
_version_ | 1783450397587800064 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6735703 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT huangweitai smurfportableandaccurateensemblepredictionofsomaticmutations AT guoyuamanda smurfportableandaccurateensemblepredictionofsomaticmutations AT muthukumarkarthik smurfportableandaccurateensemblepredictionofsomaticmutations AT baruahprobhonjon smurfportableandaccurateensemblepredictionofsomaticmutations AT changmeimei smurfportableandaccurateensemblepredictionofsomaticmutations AT jacobsenskanderupanders smurfportableandaccurateensemblepredictionofsomaticmutations |