Integrative Analyses for Rare Genetic Disease Diagnostics

Harvard HMS

An estimated 1 in 17 people worldwide are affected by a rare genetic disorder. Rare disease cases remain undiagnosed for several years on average, and most cases are never fully resolved or treated. This course provides a comprehensive exploration into the diagnostics of rare genetic diseases, starting with a review of the principles of disease genomics and covering the utility of various 'omics technologies (transcriptomics, long read sequencing) and phenotyping approaches with the ultimate…