Article

Reliable analysis of clinical tumor-only whole exome sequencing data

2019-02-18

Abstract excerpt

<h4>Background</h4> Allele-specific copy number alteration (CNA) analysis is essential to study the functional impact of single nucleotide variants (SNV) and the process of tumorigenesis. Most commonly used tools in the field rely on high quality genome-wide data with matched normal profiles, limiting their applicability in clinical settings. <h4>Methods</h4> We propose a workflow, based on the open-source PureC...

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Literature Corpus work: 57c9abcd-8628-521e-82d5-4ed32e813133
DOI: 10.1101/552711

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