Release Date: Jul 2017
CC: MK, PBL
Jianling Ji, MD, MS, FACMG
Assistant Director of Clinical Genomics, Children's Hospital of Los Angeles, Los Angeles, CA; Assistant Professor, University of Southern California, Los Angeles, CA
Exome sequencing is a powerful and cost-effective tool for dissecting the genetic basis of diseases and traits. The use of clinical exome sequencing for genetic diagnosis has grown substantially in the past few years. It is important to understand the basis of this testing. This overview lecture will provide a review on defining the exome, clinical workflow, filtering steps to identify causal variants, technical and analytical considerations, current guidelines in germline sequencing variant classification and clinical diagnostic rate. This session will also discuss briefly on incidental findings from exome sequencing, whether Sanger confirmation is necessary, and future directions.
After attending this session, participants will be able to:
· Describe the concept of clinical exome sequencing.
· Outline the clinical workflow of exome sequencing.
· Summarize some important elements to consider when applying exome sequencing for clinical diagnosis.
Who should attend? Practicing Pathologists, Residents, Doctoral Scientists, Pathologists' Assistants, Laboratory Managers, Bench Supervisors, Bench Technologists & Technicians, Cytotechnologists, Students