Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
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author: Tomasz Gambin, Donna Muzny, Eric Boerwinkle, Chad Shaw, James R. Lupski, Richard Gibbs, John W. Belmont, Shalini Jhangiani, Ender Karaca, Arthur L Beaudet, Zeynep Coban Akdemir, Theodore Chiang, Philip M. Boone, Mohammad K Eldomery, Yavuz Bayram, Asbjørg Stray-Pedersen, Vahid Bahrambeigi
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