exome

Variant of Uncertain Significance (VUS): meaning, causes and interpretation

What is a Variant of Uncertain Significance (VUS) A Variant of Uncertain Significance (VUS) is a genetic variant identified through genetic testing that cannot be clearly classified as either benign (not disease-causing) or pathogenic (disease-causing) based on the available evidence. VUS are commonly reported in tests such as gene panels, Whole Exome Sequencing (WES), or

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Incidental findings: current opinions of professionals and patients

What are incidental findings? The more exome and genome sequencing spread, the more the ascertainment and return of incidental findings becomes of crucial importance and ethical relevance. Incidental findings which are sometimes referred to as “secondary” findings or more common among researchers “incidentalome”, are defined as the counterpoint to the primarily sought after diagnostic results or

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