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Rare Disease Omics

From the 2022 Joint Annual Meeting (recorded 6/27/2022)
Presented by Jeremy Prokop, PhD and Linda Rossetti, MD, FACMG

We will discuss the current state of rare disease sequencing, both clinically and research. This will include a discussion of state wide initiatives, additional omic data integrations, and characterization of difficult variants.

At the conclusion of this presentation, participants will be able to:

  • Identify the current state of WGS clinical sequencing
  • Summarize the growth of new research directions for rare diseases
  • Summarize how variant reclassifications can be performed

ASCLS is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program. One (1) P.A.C.E. ® contact hour and one (1) Florida credit hour in the area of Molecular Biology (Molecular) will be awarded to participants. ASCLS P.A.C.E.® is accepted by the ASCP/ASCLS/AGT Board of Certification and all states, including Florida and California, as an approved provider of continuing education for recertification and licensure. ASCLS is an approved provider with CE Broker for Florida licensees.

This Advanced-level program is appropriate for laboratory professionals working in clinical, public health and academic settings.