Course : ACMG Genomics Case Conference September 2015

Clinical Exome Sequencing: MEDICAL Genetics is Required to Reach a Diagnosis

Hosted by the University of Chicago

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During this session, a team from the University of Chicago will review the utility of exome sequencing, drawing on cases from our laboratory, demonstrating rare and more common conditions with congenital to adult-onset.  

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

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Educational Credits Available
Amount of Credits: 1
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)



At the conclusion of the series, participants should be able to:

1. Demonstrate the importance of close communication between the clinical and laboratory groups

2. Utilize the literature to help identify rare genes associated with clinical phenotypes

3. Describe the benefit of exome sequencing in identifying the etiology of genetically heterogeneous conditions such as ataxia


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