SMuRF: Portable and accurate ensemble prediction of somatic mutations

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Abstract

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.

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Huang, W., Guo, Y. A., Muthukumar, K., Baruah, P., Chang, M. M., & Skanderup, A. J. (2019). SMuRF: Portable and accurate ensemble prediction of somatic mutations. Bioinformatics, 35(17), 3157–3159. https://doi.org/10.1093/bioinformatics/btz018

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