: Computers compare the patient's data to a reference human genome, filtering through roughly 25,000 variants to find the one responsible for the disease. Challenges to Consider
: Results can reveal "medically actionable" findings—variants that can directly change a patient's medical management or treatment plan. How It Works The process typically follows a standardized workflow: ABOUT EXOME Free Download
: Blood or tissue is collected from the patient (and often their parents for comparison). : Computers compare the patient's data to a
The (specifically "Whole Exome Sequencing" or WES) is a powerful genetic testing method that focuses on the protein-coding regions of your DNA. While these regions—called exons—make up only about 1% of the entire human genome , they are estimated to harbor roughly 85% of all known disease-causing mutations . Key Benefits of Exome Sequencing The (specifically "Whole Exome Sequencing" or WES) is
: Specialized techniques "fish out" the 180,000 exons from the billions of DNA base pairs.
: The test might accidentally reveal risks for other conditions (like cancer or heart disease) that the patient wasn't originally looking for.
: It is widely used to identify genetic causes for developmental delays, intellectual disabilities, and unexplained neurological disorders.