Exome sequencing is an effective diagnostic method for identifying rare disease-causing variants in genetic disorders. The challenge in analyzing the sequence variants of a patient is to discriminate between all the rare variants without medical relevance and the mutations that actually cause the disease. Many exomes of healthy controls may help to filter the data of patients and thus speed up the identification of the pathogenic mutations in genetic disorders.
Your participation in this study will help to establish a database of genetic sequence variants, which will be freely accessible for the scientific community on the platform GeneTalk. You can apply to participate in GeneTalk's personal exome project by contacting the project manager.
Based on the current funding of the project the scientific committee of GeneTalk will select the next candidates for sequencing.
Besides donating DNA, you can also donate money to fund the PEP.