Integration of Monogenic and Common Variants in Human Disease - CGSI 2022

Integration of Monogenic and Common Variants in Human Disease - CGSI 2022

Computational Genomics Summer Institute CGSI via YouTube Direct link

Intro

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1 of 9

Intro

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Integration of Monogenic and Common Variants in Human Disease - CGSI 2022

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

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