Whole Genome Sequencing
The most comprehensive DNA study, by the Leaders in Medical Genetics
What is Whole Genome Sequencing?
Whole Genome Sequencing (WGS) yields 4,000,000 genetic variants per person, which must be carefully filtered and interpreted to find the pathogenic mutation of a rare disease. In addition, several other variants may be isolated to unveil secondary phenotypes, incidental findings, and the carrier status for other rare conditions.
Doing Whole Genome Sequencing means sequencing all 20,000 human genes and intergenic regions. For every gene, both exons (coding) and introns (non-coding) are sequenced. This is an approach without compromises to studying a person’s DNA and represents today the most potent tool to end the diagnostic odyssey of rare disease patients.
What does WGS include?
Whole Genome Sequencing is aimed to identify the pathogenic mutation in rare disease patients. Besides this, it produces genetic information at an unprecedented knowledge depth.
Every genetic disease can be screened