Human genome reference GRCh38 (hg38) has been around for years but its implementation into existing NGS assays has been very slow due to various reasons. This session aims to discuss the main differences between hg19 and hg38, and identify the challenges in transitioning into hg38 in clinical NGS assays.
GRCh38/hg38 and Transitioning to hg38
Justin M. Zook, PhD, National Inst of Standards & Tech, Gaithersburg, MD, USA
Look Before You Leap: How to Systematically Move Clinical Diagnostic Testing from hg19 to hg38
Sabah Kadri, PhD, Lurie Children's Hospital of Chicago, Chicago, IL, USA
Objectives:
- Describe the main differences between hg19 and hg38.
- Describe various effects of moving a clinical NGS assay from hg19 to hg38 at various levels of test design and implementation.
- Define the effects of genome assembly change at sequence level, gene annotation level, and variant annotation level.
Recording Date: November 16, 2020
Continuing Education Credit Information
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: February 16, 2024
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