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Phenotyping of rare disease spectrum of disease is challenging
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Classroom Contents
Integration of Monogenic and Common Variants in Human Disease - CGSI 2022
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- 1 Intro
- 2 What is a Pathologist?
- 3 Sequencing is Easy
- 4 Phenotyping of rare disease spectrum of disease is challenging
- 5 Expansion of the genotypic spectrum and phenotypic spectrum
- 6 Other explanations for variable expressivity/expansion of phenotypes?
- 7 Congenital Heart Defects
- 8 ICD codes are not good phenotypes at baseline
- 9 Top decile of case control Heart Valve PRS (all SNVs) have decreased odds for a CHD classification
