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Evaluation of copy number variant detection from panel‐based next‐generation sequencing data

BACKGROUND: Targeted gene capture and next‐generation sequencing (NGS) has been widely utilized as a robust and cost‐effective approach for detecting small variants among a group of disease genes. Copy number variations (CNV) can also be inferred from the read‐depth information but the accuracy of C...

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Foilsithe in:Mol Genet Genomic Med
Main Authors: Yao, Ruen, Yu, Tingting, Qing, Yanrong, Wang, Jian, Shen, Yiping
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2018
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6382442/
https://ncbi.nlm.nih.gov/pubmed/30565893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.513
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