Not just one: the utility of whole genome sequencing for making a dual molecular diagnosis

TAKEAWAYS
• Whole genome sequencing (WGS) identifies multi-locus findings in over 5% of patients
• These findings comprise multiple types of variants, some of which next-generation sequencing (NGS) panels or whole exome sequencing (WES) alone would not capture
• WGS offers a comprehensive testing solution that can readily provide a complete diagnosis of a patient’s phenotype and enable better clinical understanding of rare disease