Laboratory genetics and genomics

747 - Characterization of copy number variants (CNVs) identified by genetic testing of inherited retinal disorders

Previous Eposter
746 - Typical and Atypical Duplications within the Recurrent Xq28 int22h1/int22h2-Flanked Region to Expand Genotype-Phenotype Correlation

Next Eposters
749 - The Diagnostic Yield of Combined Genome-Wide Copy Number Analysis and Whole Exome Sequencing in Cases of Suspected Genetic Etiology
753 - Clinical Applications of Long-Read PCR-Free Whole-Genome Sequencing (WGS) for Structural Variations (SVs) and Chromosomal Aneuploidy
754 - Pan-Cancer Repository of Validated Natural and Cryptic mRNA Splicing Mutations
755 - New Testing Approach Using CNV Detection from Whole-Exome Sequencing Data Finally Solves an Undiagnosed Case
758 - Enhancing Splicing Variant Interpretation Though Utilization of a Minigene Expression System
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