A Comparative Analysis of Algorithms for Somatic SNV Detection in Cancer

Study ID Alternative Stable ID Type
EGAS00001000927 Other

Study Description

Four recently published algorithms for the detection of somatic SNV sites in matched cancer-normal sequencing datasets are VarScan, SomaticSniper, JointSNVMix and Strelka. In this analysis, we apply these four SNV calling algorithms to cancer- normal Illumina exome sequencing of a chronic myeloid leukaemia (CML) patient. The candidate SNV sites returned by each algorithm are filtered to remove likely false positives, then characterised and compared to investigate the strengths and weaknesses of each SNV calling algorithm.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
This dataset contains the fastq sequencing data collected from bone marrow DNA of a chronic myeloid leukaemia patient at time of diagnosis.
Illumina HiSeq 2000 4

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