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Article

Reliable Analysis of Clinical Tumor-Only Whole-Exome Sequencing Data.

JCO clinical cancer informatics - 1 Apr 2020

Oh Sehyun, Geistlinger Ludwig, Ramos Marcel, Morgan Martin, Waldron Levi, Riester Markus

Abstract excerpt

PURPOSE: Allele-specific copy number alteration (CNA) analysis is essential to study the functional impact of single-nucleotide variants (SNVs) and the process of tumorigenesis. However, controversy over whether it can be performed with sufficient accuracy in data without matched normal profiles and a lack of open-source implementations have limited its application in clinical research and diagnosis. METHODS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32282230
DOI: 10.1200/CCI.19.00130
PMCID: PMC7259876

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