Biobanks from a Pathologist's Viewpoint - CGSI 2023

Biobanks from a Pathologist's Viewpoint - CGSI 2023

Computational Genomics Summer Institute CGSI via YouTube Direct link

Intro

1 of 13

1 of 13

Intro

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Biobanks from a Pathologist's Viewpoint - CGSI 2023

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  1. 1 Intro
  2. 2 What is a Pathologist?
  3. 3 Sequencing is Easy
  4. 4 Mendelian (single-gene) disorders a.k.a. monogenic
  5. 5 Other explanations for variable expressivity/expansion of phenotypes?
  6. 6 Having a monogenic disorder, disease-causing mutation does not guarantee the phenotype
  7. 7 Identify the monogenic missense variants that have the highest impact on the phenotype
  8. 8 Classification of missense variants of uncertain significance (VUS) is still an unsolved problem
  9. 9 Expressivity of monogenic missense variants is predicted by ESM1b scores.
  10. 10 Does PRS influence the expressivity of the carrier phenotype?
  11. 11 Common variants directly affect monogenic variant carrier phenotype.
  12. 12 Polygenic risk scores (PRS) quantifies an individual's genetic risk for disease
  13. 13 Common variant effect in noncarriers vs. monogenic variant effect in carriers - BMI

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