Laboratory genetics and genomics

758 - Enhancing Splicing Variant Interpretation Though Utilization of a Minigene Expression System

Previous Eposter
755 - New Testing Approach Using CNV Detection from Whole-Exome Sequencing Data Finally Solves an Undiagnosed Case

Next Eposters
760 - Incidental Finding of Somatic Hematologic Abnormality by Whole Exome Sequencing for an Unrelated Germline Indication
764 - Haploinsufficiency of Basic Helix-Loop-Helix Transcription Factor HAND2 Causes Congenital Heart Defects
765 - Thrombocytopenia-Absent Radius Syndrome 1q21.1 Deletions in the Prenatal and Postnatal Setting: Analysis of Inheritance and Ascertainment in a Large Cohort
771 - A Novel Bioinformatics Pipeline for Clinical Mitogenome Diagnostics
777 - Identification of Novel Genes in Patients with Autism Spectrum Disorders (ASD) Using Exome Sequencing
781 - Sudden Unexplained Infant Death (SUID): “Molecular Autopsy” Using SUID Next Generation Sequencing Panel
782 - Evaluation of the Advanta™ CFTR NGS Library Prep Assay and the Juno™ System:  Perspective of a Diagnostic Testing Laboratory
787 - EWSR1 C-terminal Deletion Detected by FISH may Represent EWSR1 Rearrangement 
790 - Utility of Next Generation Sequencing Based Gene Panel in Reproductive Medicine – a Pilot Study on Indian Population
793 - GenomeDiver: An Interactive Tool to Explore Phenotypes and Variants in Interpreting Genetic Testing Results