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Additionally, we investigated the accuracy of the publicly available mutation detection algorithms to detect cancer specific SNVs which will aid researchers and clinicians in study design and implementation of WGS for the identification of somatic mutations in other cancers.
These situations must be considered when setting up mutation detection algorithms.
DWC co-designed the somatic mutation detection algorithms and provided feedback and guidance throughout development.
The PCR assay can reliably be performed on FFPE samples and has a faster turnaround time than current IDH mutation detection algorithms.
To develop methods for optimal somatic mutation detection and to identify factors influencing somatic mutation prediction accuracy, we validated predictions from three somatic mutation detection algorithms, MuTect, JointSNVMix2 and SomaticSniper, by Sanger sequencing.
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The appropriate level of coverage and the optimal mutation detection algorithm for the project pipeline were determined.
The choice of somatic mutation detection algorithm may have an important influence on the outcome of a tumor exome-sequencing study.
The p53 mutation status was determined by a p53 Mutation Detection Algorithm developed for research use by Roche Molecular Systems, which is designed to detect single base-pair substitutions and single base-pair deletions of a sample in a background of WT p53 DNA probe intensities.
Nevertheless, high throughput sequencing by NGS technologies coupled with variant detection algorithms is also starting to be used to detect such mutations [ 25, 26].
> Finally, the uniqueome allows higher confidence in mutation detection (e.g. cancer resequencing), where mis-mapping can confound SNP calling algorithms.
The three programs used here were selected because they are widely used in the cancer MPS community, and use distinct detection algorithms, but any combination of programs should lead to improved somatic mutation detection.
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