Course : Featured Platform Presentations

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.



Course Description

The four top-rated abstracts are Featured Platforms held during a special plenary session held during the 2017 ACMG Annual Clinical Genetics Meeting. The abstracts cover clinical genetics, molecular genetics/exome, and biochemical genetics. See the listing below of the abstracts presented under sessions. You may also read the abstracts by clicking on the link under Course Information.

1. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability
2. Computational prediction of position effects of apparently balanced human chromosome
3. ClinGen Sequence Variant Interpretation Work Group recommendations for ACMG/AMP
4. New Diagnostic Biomarkers for Peroxisomal Biogenesis Disorder

Target Audience

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting attendees include:

  • Medical and clinical geneticists
  • Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
  • Genetic counselors
  • Laboratory geneticists, directors, technicians and technologists
  • Researchers
  • Pathologists
  • Educators
  • Nurses
  • Dietitians            
  • Physician assistants
  • Biotechnology and pharmaceutical development professionals
  • Fellows, Trainees and Students
  • Public health professionals
  • Genetic/consumer advocates
  • Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


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

1. Describe a novel genetic syndrome due to de novo mutations in the gene WDR26
2. Describe the diverse levels of chromatin organization and their association with disease
3. Appropriately modify the weight of ACMG/AMP guideline criteria
4. Demonstrate applicability of untargeted metabolomics in the diagnosis of inborn errors of metabolism.
5. Report novel biomarkers associated with peroxisomal biogenesis disorders in the Zellweger spectrum.

Purchase without Educational Credits