Laboratory genetics and genomics

736 - Anticipated Positive Rates for Genetic Testing in the General Population: a “Virtual Panel” Approach

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735 - MADSEQ (Mosaic Aneuploidy Detection by Sequencing) Reveals Unrecognized Chromosomal Aneuploidies in Human Samples

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737 - Characterization of Exon Level Genomic Copy Number Changes in 1855 Normal Individuals
740 - Copy Number Variant Detection using Existing Exome and Genome Data
741 - Exome reanalysis by leveraging human phenotype ontology terms.
742 - Is microarray SNP genotyping preferred over conventional FISH/DNA tests for methylation-specific PCR positive PWS cases? Case studies and literature review
743 - Pathogenicity of Variants in ACMG Clinically Actionable Genes in the Amish
746 - Typical and Atypical Duplications within the Recurrent Xq28 int22h1/int22h2-Flanked Region to Expand Genotype-Phenotype Correlation
747 - Characterization of copy number variants (CNVs) identified by genetic testing of inherited retinal disorders
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