VUS in WES

When sequencing the entire human genome (whole genome sequencing), the average number of variants detected in one person is about 4 million. From whole-exome sequencing, the number of genetic variants detected is very high too. So, how do we guess the clinical significance of all those variants? The vast majority of genetic variants are polymorphisms, […]

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What’s the right price for whole exome sequencing?

This is one of the most frequent questions I am being asked and one of the most searched on the internet: what's the price of whole exome sequencing (which consists of the sequencing of all human genes)? Of note, whole exome sequencing does not consist in the sequencing of the entire genetic heritage of an […]

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Phenotype expansion in rare disorders

By doing genetic testing through high-throughput Next Generation Sequencing, more specifically by doing whole exome sequencing and whole genome sequencing, patients affected by a well defined syndrome may be found to harbor a pathogenic mutation in a gene previously known to be associated with a different phenotype. Similarly, a patient with a certain syndrome caused […]

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