RNA Sequencing – Case Studies & Clinical Relevance

Next-generation sequencing has evolved into a powerful diagnostic tool helping thousands get answers to the most challenging disease diagnoses. Even with today’s newest equipment, many diagnostic reports may include one or more VUS that are hard to interpret as being potentially pathogenic or uninvolved. RNA sequencing can help re-classify a VUS, both in coding and non-coding regions, as a disease-causing variant. Additionally, this analysis can detect gene functionality and determine expressivity in an individual or specific tissue types.


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