Release Date: Jul 2019
CC: MK, PBL
Obi L. Griffith, PhD
Assistant Professor, Washington University, St. Louis, MO
After completing this course, participants will be able to:
Understand, read, and use HGVS standards.
Utilize key databases for variant interpretation.
Apply AMP and ACMG guidelines for variant interpretation.
Who should attend? Practicing Pathologists, Residents, Doctoral Scientists, Pathologists’ Assistants, Laboratory Managers, Students
This course will review popular databases and resources for cancer variant interpretation such as ExAC (gnomAD), ClinVar, and CIViC. Background review will cover variant calling pipelines, standard file formats (BAM, FASTQ, and VCF), variant coordinate systems, HGVS notation, variant annotation, and AMP/ACMG guidelines for variant interpretation.