6.047/6.878 Lecture 14 - GWAS and Disease Dissection (Fall 2020)

6.047/6.878/HST.507 Fall 2020 Prof. Manolis Kellis
Computational Biology: Genomes, Networks, Evolution, Health
Machine Learning in Genomics: Dissecting the circuitry of Human Disease

OVERVIEW
0:00 Overview
0:50 Motivation: 23andMe AMD results
3:47 Lecture overview
5:54 Mendelian inheritance
8:00 Linkage mapping for Mendelian Traits
12:54 Complex traits and polygenic inheritance
16:30 GWAS and complex trait associations
18:41 Performing a Genome-wide Asssociation Study
25:20 Winner's curse and regression to the mean
28:03 GWAS multiple testing correction
32:02 Manhattan plot and QQ plot
35:37 GWAS fine-mapping approaches
41:40 GWAS vs. Linkage power regimes
45:00 Power increase and inflection point
51:09 Interpretation and mechanism dissection
55:18 Tools for non-coding GWAS locus dissection
1:01:33 Epigenomics and GWAS
1:05:00 GWAS vs. Tissue-of-action matching
1:10:35 EpiMap: scaling and GWAS locus dissection
1:13:00 Multi/poly-factorial trait partitioning
1:18:26 FTO locus dissection
1:20:16 Step1 - Establish Relevant Tissue/Cell Type
1:21:28 Step2 - Find Target Genes
1:23:03 Step3 - Find Causal SNP
1:24:18 Step4 - Find upstream regulator
1:25:40 Step5 - Cellular phenotypes
1:27:16 Step6 - Manipulation and organismal phenotypes
1:29:10 FTO Summary
1:30:18 Lecture Summary

[springfield]

Thank you very much M. Kellis, for those comprehensive and amazing lectures. My project is bout GWAS in plant diseases, seems not much differences..

[lifeinmotion]

Hi, this video is not added to the related playlist in your YouTube channel. Many thanks for sharing your lectures

[dr.raghdaal_najjar]

Thank you very much Professor Kellis. Amazing lectures.. I am from Iraq and I may be the only one here interested in Genomics.. Could you please suggest a book about Genomic to me? I tried to download your book from Massachusetts Institute of Technology website, but it did not work..