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Omics score: 1003

Genetics and Molecular Pathology, SA Pathology

ABSTRACT: Organisation EGAO00000000300

PROVIDER: EGAO00000000300 | EGA |

REPOSITORIES: EGA

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A comparative analysis of algorithms for somatic SNV detection in cancer.

Roberts Nicola D ND Kortschak R Daniel RD Parker Wendy T WT Schreiber Andreas W AW Branford Susan S Scott Hamish S HS Glonek Garique G Adelson David L DL

Bioinformatics (Oxford, England) 20130709 18

<h4>Motivation</h4>With the advent of relatively affordable high-throughput technologies, DNA sequencing of cancers is now common practice in cancer research projects and will be increasingly used in clinical practice to inform diagnosis and treatment. Somatic (cancer-only) single nucleotide variants (SNVs) are the simplest class of mutation, yet their identification in DNA sequencing data is confounded by germline polymorphisms, tumour heterogeneity and sequencing and analysis errors. Four rece ...[more]

PMID: 23842810

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