Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, Jianhong Hu, Fritz Joachim Sedlazeck, Simon J. White, Daniel J. Schaid, Mariza de Andrade, Gail Pairitz Jarvik, David R. Crosslin, Ian B. Stanaway, David Carrell, John J. Connolly, Hakon H. Hakonarson, Emily Groopman, , Richard A. Gibbs
Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.
Genetics in Medicine · Mar 19, 2019Peer-reviewedGenomics