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