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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Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2019
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Article
Acesso em linha: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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