Article

ExactCN: Predicting Exact Copy Numbers on Whole Exome Sequencing Data

2025-11-26

Abstract excerpt

The quantification of the precise copy number variations (CNVs) is crucial to understanding the effects of gene dosage, disease severity, and therapeutic response. Although whole-exome sequencing (WES) offers a cost-effective solution for CNV detection in a clinical setting, it introduces several biases, including those related to sequence length, GC content, and the use of targeting probes. Consequently, estimati...

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Literature Corpus work: c1628f77-61a0-5ba0-82ee-55656f0974c1
DOI: 10.1101/2025.11.24.690086

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