Yale Clinical Grand Rounds 12/20/22 | Dr. Xi Luo, PhD |'Exploring the clinical relevance of genes...

Learning objectives:
(1) Recognize the significance of the Undiagnosed Diseases Network projects to solve patients’ medical mysteries through team science using advanced technologies.
(2) 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.
(3) Summarize the advantages of Whole Genome Sequencing (WGS) as a first-tier genetic test comparing to the traditional WES and CMA combo.