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Biobanks from a Pathologist's Viewpoint - CGSI 2023
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- 1 Intro
- 2 What is a Pathologist?
- 3 Sequencing is Easy
- 4 Mendelian (single-gene) disorders a.k.a. monogenic
- 5 Other explanations for variable expressivity/expansion of phenotypes?
- 6 Having a monogenic disorder, disease-causing mutation does not guarantee the phenotype
- 7 Identify the monogenic missense variants that have the highest impact on the phenotype
- 8 Classification of missense variants of uncertain significance (VUS) is still an unsolved problem
- 9 Expressivity of monogenic missense variants is predicted by ESM1b scores.
- 10 Does PRS influence the expressivity of the carrier phenotype?
- 11 Common variants directly affect monogenic variant carrier phenotype.
- 12 Polygenic risk scores (PRS) quantifies an individual's genetic risk for disease
- 13 Common variant effect in noncarriers vs. monogenic variant effect in carriers - BMI
