Course : ACMG Genomics Case Conference January 2019

Solving the Unresolved: A Systematic Approach to WES Negative Patients in the Undiagnosed Diseases Network

Hosted by Duke/Columbia and Vanderbilt UDN Clinical Sites) Click Launch for details.

Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description
Despite its effectiveness, 60-75% of patients remain undiagnosed after WES (WES negatives). Standard WES reanalyses can resolve 10-15% of these WES negative cases. Thus, further approaches are necessary to maximize diagnoses in these individuals. The UDN is increasingly accepting patients who are WES negative. The Duke/Columbia and Vanderbilt UDN sites will outline their approaches to WES negative cases and present two illustrative cases that were resolved after a negative WES, by utilizing innovative bioinformatics in WES reanalyses, WGS and functional studies.

Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.

b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: January 23, 2019
Expiration Date: January 23, 2022
Estimate Time of Completion: 1 hour
Credit Offered: CME

Course Information Please Click Here

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Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

1.Delineate systematic approaches to WES negative cases
2.Recognize the importance of the role of WES reanalyses and non-coding variants in WES negative cases
3.Illustrate the importance of functional studies in determining pathogenicity of variants of interest

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