Unraveling Complex Ataxia Cases Through Whole Genome Sequencing

Ataxias are caused by a uniquely complex array of variant types including single nucleotide variants, indels, exon-level deletions and duplications, copy number variants (CNVs) and tandem repeat expansions. Testing based on whole genome sequencing (WGS) methodology covers a broader range of variant types than other NGS methods, making it ideally suited for unraveling the complexities of ataxia cases. In this talk we will discuss the unique aspects of WGS-based testing and will present a series of ataxia cases, including ones where testing identified causal variants of two different types in the same patient.

Listen in as Christine Stanley, PhD, FACMG, discusses how genome testing differs from panel and exome testing and presents a series of cases recently solved using Genomic Unity® Whole Genome Analysis.