GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Mehrtash Babadi, Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker, David Benjamin, Xuefang Zhao, Konrad J. Karczewski, Isaac Wong, Ryan L. Collins, Alba Sanchis‐Juan, Harrison Brand, Eric Banks, Michael E. Talkowski
Topics & Concepts
Copy-number variationBiologyExome sequencingGeneticsExome1000 Genomes ProjectComputational biologyGenomeGenePhenotypeSingle-nucleotide polymorphismGenotypeGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesCancer Genomics and Diagnostics