HMZDelFinder is a tool for detection of homozygous/hemizygous copy number variation (CNV) in data from Mendelian disease cohorts.
Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR "Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort." Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. https://doi.org/10.1093/nar/gkw1237
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