The Tapestry DNA Sequencing Research Study sequences the exomes of patients and links the results to their EHRs to tailor prevention, diagnosis and treatment of three hereditary conditions: familial hypercholesterolemia (a type of high cholesterol); hereditary breast and ovarian cancer syndrome; and Lynch syndrome (a kind of colorectal cancer).
The Mayo Clinic Center for Individualized Medicine said March 7 it finished study recruitment almost a year and a half ahead of schedule. The project has 114,000 participants, with 94,000 exomes already having been sequenced. About 1.8% of the patients’ genomes carried a variant that ups their risk for one of the three diseases; they have been offered genetic counseling and provided referrals when necessary.
Raw data on the patients’ exomes are also available for use by researchers.
