Overview

Although the CHM13 reference represents a complete human genome, it lacks the full diversity of human haplotypes present in Africa. Analysis pipelines which map sequencing reads to a single linear reference may suffer from “reference genome bias”, where unmapped reads bias downstream analysis. The impact of reference genome bias in the clinical evaluation of genome sequencing data from African ancestry individuals with rare diseases is unknown. In this talk, we will explore the feasibility and advantages of using a pangenome reference graph in the clinical evaluation of genome sequencing data by sharing results from NMDscan, a personalized pangenome graph pipeline for the analysis of short-read sequencing data from patients with amyotrophic lateral sclerosis (ALS) and other inherited neuromuscular disorders (NMDs).

Type of training

Virtual Webinar

Date

Intended Audience

Individuals interested in learning about the pangenome reference graphs

Link to recordings