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Association for Molecular Pathology

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If you are viewing this webinar in a group setting, please use the P.A.C.E. Attendance Roster. Each participant is required to print and sign his or her name and address to verify attendance. Once the webinar has concluded, the designated "Site Coordinator" must email this form to Kathleen Carmody, P.A.C.E. Coordinator, in order for each participant to receive P.A.C.E. credit. Please contact Kathleen Carmody via email with any questions.

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ACMG Interpretation of Sequence Variants
Thursday, April 24 at 2:00 pm Eastern

Presenters: C. Sue Richards, PhD, Oregon Health & Sciences University, Portland, OR; Elaine Lyon, PhD, ARUP Laboratories, Salt Lake City, UT; and Madhuri Hegde, PhD, Emory University, Atlanta, GA

Host: Jill M. Hagenkord, MD, Invitae, Los Altos, CA - Member, AMP Training & Education Committee

 

Title of Dr. Sue Richard's talk: Overview of Interpretation of Sequence Variants
Title of Dr. Elaine Lyon's talk: Applying the Evidence Rules in Case Studies
Title of Dr. Madhuri Hegde's talk: Standardizing Reporting and Structuring Results: Transitioning from Sanger to Next Generation Sequencing

 

Description: Over the last year a workgroup composed of ACMG, AMP, and CAP representatives has developed new guidelines on the "Interpretation of Sequence Variants." This effort focused on interpreting Mendelian variants identified by single gene testing, gene panels, and exome analysis in clinically validated genes. The workgroup developed a set of standard terms for classifying variants. The interpretation of a variant is based on multiple lines of evidence and a menu approach for scoring. The results of this effort as a proposed recommendation will be presented. The three speakers will discuss the evidence-based approach for classifying variants, how to report variants, and how to apply the evidence rules and scoring to real case examples.

 

Learning Objectives:

1. Describe the evidence required to classify sequence variants.
2. Describe the reporting requirement for sequence variants detected by Sanger and Next Generation sequencing.
3. Practice the art of variant classification through selected cases.

 

Level of Instruction: Advanced

 

Number of Contact hours: 1.0

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CDC's GeT-RM Browser Demostration
Thursday, May 08 at 2:30 pm Eastern

Presenters: Lisa Kalman, PhD, Centers for Disease Control, Atlanta, GA; Birgit Funke, PhD, Harvard Medical School, Boston, MA;  Melissa Landrum, PhD, NIH/NLM/NCBI, Bethesda, MD; and Justin Zook, PhD, NIST, Gaithersburg, MD

Host: Christopher D. Watt, MD, PhD, Hospital of the University of Pennsylvania, Philadelphia, PA

 

Description:  to follow

 

Learning Objectives:  to follow

 

Level of Instruction: Beginner to Intermediate

 

Number of Contact hours: 1.0

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P.A.C.E. Attendance Roster

Certificate of Attendance

 

Handout

 

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