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Human Mutation|April 28, 2017
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnosticsGundula Povysil, Antigoni Tzika, Julia Vogt, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndromeChristopher M Watson, Laura A Crinnion, Antigoni Tzika, et al.
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