Detecting Rare Diseases With Whole Exome Sequencing

Detecting Rare Diseases With Whole Exome Sequencing

A rare disease will affectย 6% of the populationย at some point in their lives. Around 80% of rare diseases have a genetic origin and can be attributed to abnormalities or biological triggers in a personโ€™s genome. Symptoms vary widely and can often mirror other more common conditions, resulting in many patients being misdiagnosed. Improvements to diagnostic technologies are needed to help …