Nara Sobreira

May 10, 2024 | digitalcommons.library.tmc.edu | Samantha Baxter |Jennifer E. Posey |Nicole J Lake |Nara Sobreira

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.