Mayo Clinic's Tapestry Study: A New Era in Personalized Medicine

Mayo Clinic's groundbreaking Tapestry study has amassed the clinic's largest-ever collection of **exome data**, focusing on **genes coding for proteins** that are crucial in understanding health and disease. Led by Dr. Konstantinos Lazaridis, this research analyzed DNA from over **100,000 participants** of diverse backgrounds. The study concentrated on pathogenic and likely pathogenic genetic variants linked to hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia. Findings indicated that nearly **1.9%** of participants had a genetic variant increasing their disease risk, with 65% having no prior history of associated conditions. Remarkably, the study operated remotely, overcoming pandemic challenges via digital engagement, showcasing a decentralized research model. Participants' saliva samples from Mayo's campuses were sequenced to identify disease-associated genes, especially the BRCA1 and BRCA2 genes. A new extensive genetic data repository has been created, enabling future research and supporting ongoing individual projects, fostering innovation, and collaboration in the scientific community. This study sets a new standard for large-scale, decentralized medical research, laying the groundwork for future advancements in understanding DNA and potentially other bio-molecules like RNA and proteins.