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Updated: Jan 30, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
SMuRF: portable and accurate ensemble prediction of somatic mutations
Weitai Huang1,2, Yu Amanda Guo1, Karthik Muthukumar1
1Department of Computational and Systems Biology, Agency for Science Technology and Research, Genome Institute of Singapore, Singapore, Singapore.
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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