CASE STUDIES & WEBINARS

Diagnostic Testing
with Genomic Unity®

Interactive Case Studies

On-demand webinars

The Future is Here: How genomes are revolutionizing genetic testing

Did you know whole genome sequencing (WGS) is available across many clinical specialties including adult genetics, pediatrics, prenatal, and cancer? Are you interested in learning more about WGS technology and the many ways it can be used? 

Join Dr. Christine Stanley, Chief Director of Clinical Genomics at Variantyx, in our webinar to learn about the advantages of WGS vs. WES, what types of variants WGS can detect, and why clinicians should consider WGS for their patients. Dr. Stanley also highlights a series of recent clinical cases that illustrate variants found on WGS that were missed on other platforms.

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.

The exome blind spot: Genomes catch what exomes miss

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 testing. All of the cases highlight causative variants that could not have been identified by exome sequencing.

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