The Real World Phenotypic Presentation of Mendelian Disease - CGSI 2024

Explore the complex landscape of Mendelian disease phenotypes in a 38-minute conference talk delivered by Lisa Bastarache at the Computational Genomics Summer Institute (CGSI) 2024. Delve into the real-world manifestations of genetic disorders, examining how they present clinically and the challenges in their diagnosis. Gain insights from related research papers discussing genomic medicine progress, the association of pathogenic variants with multiple diseases, and diagnostic delays in monogenic disorders. Enhance your understanding of the intricate relationship between genotype and phenotype in Mendelian diseases, and learn about the latest advancements in computational genomics applied to this field.