When Short Reads Fall Short: The Promise of Long-Read Sequencing in Diagnosis of Rare Diseases

The Undiagnosed Diseases Network hosts a quarterly lecture in the format of Grand Rounds on lessons learned from the rare disease population, protocols, or novel technologies related to rare disease. We will feature descriptions of clinical phenotype and diagnostic evaluations of UDN patients. We will also cover strategies for diagnosing patient cases with complex, non-conformant phenotypes that includes comprehensive evaluation, genomic testing and analysis, and functional studies of the effects of identified genes or their variants.

In this session, Dr. Corona will share about the benefits of long-read sequencing in the diagnosis of rare diseases.

This webinar will be 10-11 am Pacific Time.

1. Describe the limitations of short-read sequencing in diagnosing rare genetic diseases.
2. Discuss the advantages of long-read sequencing in detecting genetic variation.
3. Evaluate clinical scenarios where long-read sequencing provides added diagnostic value.
4. Analyze current challenges in the interpretation of long-read sequencing data.

In support of improving patient care, Stanford Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Credit Designation 
American Medical Association (AMA) 
Stanford Medicine designates this Live Activity for a maximum of 1.00 AMA PRA Category 1 Credits^TM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Cancellation Policy
Stanford University School of Medicine reserves the right to cancel or postpone this program if necessary.

Accessibility Statement
 Stanford University School of Medicine is committed to ensuring that its programs, services, goods and facilities are accessible to individuals with disabilities as specified under Section 504 of the Rehabilitation Act of 1973 and the Americans with Disabilities Amendments Act of 2008.  If you have needs that require special accommodations, please contact the coordinator.

Cultural and Linguistic Competency
The planners and speakers of this CME activity have been encouraged to address cultural issues relevant to their topic area for the purpose of complying with California Assembly Bill 1195. Moreover, the Stanford University School of Medicine Multicultural Health Portal contains many useful cultural and linguistic competency tools including culture guides, language access information and pertinent state and federal laws. You are encouraged to visit the Multicultural Health Portal: https://laneguides.stanford.edu/multicultural-health

For activity related questions, please contact
     Name: Emily Glanton
     Email: [email protected]

For CME general questions, please contact 
     Email: [email protected]

Mitigation of Relevant Financial Relationships

Stanford Medicine adheres to the Standards for Integrity and Independence in Accredited Continuing Education.

There are no relevant financial relationships with ACCME-defined ineligible companies for anyone who was in control of the content of this activity, except those listed in the below table.

All of the relevant financial relationships listed for these individuals have been mitigated.