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Dataset Information

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The South Australian Cancer Research Biobank and SA Pathology


ABSTRACT: Organisation EGAO00000000302

PROVIDER: EGAO00000000302 | EGA |

REPOSITORIES: EGA

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Publications

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]

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