Laboratory genetics and genomics

793 - GenomeDiver: An Interactive Tool to Explore Phenotypes and Variants in Interpreting Genetic Testing Results

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790 - Utility of Next Generation Sequencing Based Gene Panel in Reproductive Medicine – a Pilot Study on Indian Population

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794 - Incidental Finding of Hematological Malignancy by Whole Exome Sequencing and Chromosomal Microarray
804 - Sex Chromosome Abnormalities Identified among 3240 Participants in the Colorado Center for Personalized Medicine Biobank
815 - A 15Mb terminal deletion in a female with relatively normal clinical presentation further highlights phenotypic variability of 4q deletion syndrome
824 - Clinical Utility of Overlapping Gene Lists for Identifying Candidate Genes for Neurodevelopmental Disorders
825 - Molecular Diagnosis in Patients with Hereditary Spastic Paraplegia using Targeted NGS panels
827 - Impact of Clinician Review and Collaboration on Variant Interpretation for Inherited Primary Immunodeficiencies
829 - Development of a GBA Sanger Sequencing Assay to Diagnose Gaucher Disease
830 - Definitive Diagnosis of Gray Platelet Syndrome (GPS) Established by Identification of Novel NBEAL2 Pathogenic Variants Highlights the Utility of Next-generation Sequencing (NGS) for Diagnosing Rare Platelet Disorders
834 - ClinVar Makes Updates Easy: A New Online Form to Update a Single SCV
835 - Is karyotyping still useful in the pediatric population? Experience of a certified Genetic Laboratory in Colombia, Latin America