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Resources and Strategies for the Interpretation of Germline Variants

From the 2020 Joint Annual Meeting (June 28, 2020)
Pre-Conference Workshop
Presented by Rachel Lewis, MS, MB(ASCP)
This workshop will cover the background information necessary to properly curate a gene prior to interpretation of variants in that gene. Additionally, the presenter will introduce the categories of data that you will consider as you interpret novel variants and will present the online resources that are freely available to find this data.

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

  1. Identify the data necessary to properly curate a gene prior to variant interpretation.
  2. Categorize the data that should be considered when interpreting a novel variant and learn how to approach these different categories of data.
  3. Discuss what online resources are freely available to use during the process of variant interpretation.

This recorded presentation is P.A.C.E. ® accredited. The instruction level for this activity is Intermediate. Two (2) P.A.C.E. ® contact hour and two (2) Florida credit hour in the area of Cytogenetics/Molecular Biology 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 intermediate-level program is appropriate for laboratory professionals working in clinical, public health and academic settings.