Mutation detection rate of exome sequencing using next-generation sequencing panel results as a reference Poster Holly Laduca, Sha Tang, Shruti Bhide, Kelly Gonzalez, Layla Shahmirzadi, Soren Fischbach, Hong Lu, Hsiao-Mei Lu, Xiang Li
Clinical report of a 17q12 microdeletion with additional unreported clinical features: Expansion on the phenotype Poster Stephanie Gandomi, Melissa Parra, MS, CGC, Jennifer Roberts, Chia-Ling Gau, PhD, DABMG, Merlin G. Butler
Clinical report of concurrent Trisomy 21 and 22q11.21 microdeletion identified through array-based comparative genomic hybridization Poster Stephanie Gandomi, Melissa Para, Jill Kelsay, Chia-Ling Gau, PhD, DABMG, Kent McKelvey
Strategy for reporting secondary findings for diagnostic exome sequencing (DES) Poster Shahmirzadi L, Gonzalez K, Tang S, Parra M, Palmaer E, Keiles S, Chao E