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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752313/
https://www.ncbi.nlm.nih.gov/pubmed/30890783
http://dx.doi.org/10.1038/s41436-019-0475-4

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