Genetics Clinical Grand Rounds: Exploring the clinical relevance of genes and variants for the improvement of patient care: from UDN to ClinGen to diagnostic lab

Program Objective(s):

1 Recognize the significance of the Undiagnosed Diseases Network projects to solve patients’ medical mysteries through team science using advanced technologies

1 Describe how ClinGen Variant Curation Expert Panels are developing gene-/disease- specific variant classification guidelines and the importance of ClinGen Gene Curation efforts on providing guidance for the selection of genes on laboratories’ clinical genetic testing panels

2 Summarize the advantages of Whole Genome Sequencing (WGS) as a first-tier genetic test comparing to the traditional WES and CMA combo.