Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

PURPOSE: To provide a validated method to confidently identify exon-containing copy-number variants (CNVs), with a low false discovery rate (FDR), in targeted sequencing data from a clinical laboratory with particular focus on single-exon CNVs. METHODS: DNA sequence coverage data are normalized with...

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izdano v:Genet Med
Main Authors: Chiang, Theodore, Liu, Xiuping, Wu, Tsung-Jung, Hu, Jianhong, Sedlazeck, Fritz J., White, Simon, Schaid, Daniel, Andrade, Mariza de, Jarvik, Gail P., Crosslin, David, Stanaway, Ian, Carrell, David S., Connolly, John J., Hakonarson, Hakon, Groopman, Emily E., Gharavi, Ali G., Fedotov, Alexander, Bi, Weimin, Leduc, Magalie S., Murdock, David R., Jiang, Yunyun, Meng, Linyan, Eng, Christine M., Wen, Shu, Yang, Yaping, Muzny, Donna M., Boerwinkle, Eric, Salerno, William, Venner, Eric, Gibbs, Richard A.
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group US 2019
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752313/
https://ncbi.nlm.nih.gov/pubmed/30890783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0475-4
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