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Lecture Overview
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Review: Genetics, Variation, GWAS, Polygenic scores PGS
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From GWAS to biological insights
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Bayesian Fine-Mapping
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Sub-threshold Region Prioritization
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GWAS locus dissection: enriched tissues, driver SNPs, target genes
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Partitioning complex traits into tissue-specific components
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From Individual GWAS Region to Mechanism and Circuitry
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Introduction to FTO locus, strongest Genetic Association with Obesity
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Step 1 - Establish relevant tissue/cell type
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Step 2 - Establish downstream target genes
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Step 3 - Establishing causal nucleotide variant
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Step 4 - Establish upstream regulator causality
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Step 5 - Establish cellular phenotypic consequences
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Step 6 - Establish organismal phenotypic consequences
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Quantitative Trait Loci: eQTL/meQTLanalysis
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Mediation Analysis + Mendelian Randomization
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Heritability and Systems Genetics
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Partitioning heritability by functional annotations
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Omnigenic vs. polygenic vs. monogenic inheritance
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Summary
Description:
Save Big on Coursera Plus. 7,000+ courses at $160 off. Limited Time Only! Grab it Explore disease mechanisms and genetic analysis in this comprehensive lecture covering genome-wide association studies (GWAS), biological insights, and complex trait analysis. Learn about Bayesian fine-mapping, sub-threshold region prioritization, and tissue-specific component partitioning. Dive deep into the FTO locus, examining its connection to obesity through a six-step analysis process that includes tissue identification, target gene establishment, and phenotypic consequences. Master concepts like quantitative trait loci analysis, mediation analysis, Mendelian randomization, and heritability in systems genetics. Understand the differences between omnigenic, polygenic, and monogenic inheritance patterns while exploring how functional annotations contribute to heritability partitioning. Access supplementary materials including detailed notes, slides, and chapter resources to enhance learning of these complex genetic concepts.

Disease Mechanism and Genetic Analysis: From GWAS to Biological Insights - Lecture 18

Manolis Kellis
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