Article

An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth

2017-07-14

Abstract excerpt

Copy number variants (CNV) are a major cause of disease, with over 30,000 reported in the DECIPHER database. To use read depth data from targeted Next Generation Sequencing (NGS) panels to identify CNVs with the highest degree of sensitivity, it is necessary to account for biases inherent in the data. GC content and ambiguous mapping due to repetitive sequence elements and pseudogenes are the principal components...

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Literature Corpus work: b95e6271-a110-5bdc-8534-dc89b47ba1d6
DOI: 10.12688/wellcomeopenres.11548.1

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