Talk title:

Improving Genetic Diagnosis in Rare Disease: From Centrosome Biology to Advanced Copy Number Analysis

Learning objectives:

1.    Appreciate the contribution of centrosome protein defects in the genetic diagnosis of rare diseases.
2.    Assess the clinical utility of copy number calling from exome sequencing data.
3.    Evaluate the application of optical genome mapping to improve interpretation of complex copy number events.

Speaker:

Avinash V. Dharmadhikari, PhD, MS, DABMGG, FACMG, NYCQ, CLG
Assistant Director, Clinical Genomics, Center for Personalized Medicine
Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles
Assistant Professor of Clinical Pathology, Keck School of Medicine at USC