Dataset Information
Genetics and Molecular Pathology, SA Pathology
Ontology highlight
ABSTRACT:
PROVIDER: EGAO00000000300 | EGA |
REPOSITORIES: EGA
Publications
A comparative analysis of algorithms for somatic SNV detection in cancer.
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]
