The Real World Phenotypic Presentation of Mendelian Disease - CGSI 2024
Offered By: Computational Genomics Summer Institute CGSI via YouTube
Course Description
Overview
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.
Syllabus
Lisa Bastarache | The real world phenotypic presentation of Mendelian disease | CGSI 2024
Taught by
Computational Genomics Summer Institute CGSI
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