CSCI2950-L: Medical Bioinformatics: Disease Associations, Protein Folding and Immunogenomics

Class Notes

The Homework page will contain all mandatory readings. Watch past guest lecturers: Samuel Broder and Jonathan Yewdell

Note: Some documents are only accessible from within the campus network.


Scribe template and LaTeX tutorials



Lecture/Date Topic Slides and Notes Suggested Readings
Thursday 09/02/10 An introduction to key biological concepts and disease associations

SNPs and the Human Genome[PPT]

Genetic Variation in the Human Genome[PPT]

Human Genome to Clinical Therapy[PPT]

Tuesday 09/07/10 Haplotype Blocks, Tagging SNPs, Immunology Intro

Immunogenomics[PPT]

Haplotype Blocks and Tagging SNPs[PPT]

Guilt by Association[PDF]

Viruses in the Sea[PDF]

Thursday 09/09/10 GWAS Caveats and Protein Folding Introduction

Protein Folding Introduction[PPT]

GWAS Caveats[PPT]

Drinking from the Fire Hose -- Statistical Issues in GWAS[PDF]
Tuesday 09/14/10 Population Genetics Models

Population Genetics and Hardy Weinberg[PDF]

Thursday 09/16/10 Hardy-Weinberg for Two Alleles and D Hardy Weinberg[PDF]

Tuesday 09/21/10 Linkage Disequilibrium, D', and r-squared LD, D' and r^2[PDF]

A haplotype map of the human genome [PDF]
Thursday 09/23/10 LD, r-squared, HapMap, and GWAS

LD and Recombination [PDF]

r^2 [PDF]

GWAS [PDF]

HapMap Intro [PPT]

Linkage disequilibrium and the mapping of complex human traits [PDF]
Tuesday 09/28/10 Tagging SNPs and Haplotype Blocks

The Architecture of Linkage Disequilibrium Blocks Across Chromosomes 6, 21, & 22 [PPT]

Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21 [PDF]
Thursday 09/30/10 Tag SNPs, Hap Blocks, and Min Informative Subset

The Minimum Informative Subset [PPT]

Importance of Studying Haplotypes [PPT]

Efficiency and power in genetic association studies [PDF]

Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium [PDF]

The Structure of Haplotype Blocks in the Human Genome [PDF]

Tuesday 10/05/10 Haplotype Phasing -- Clark and EM methods

Computing Haplotype Frequencies and Haplotype Phasing via the Expectation Maximization (EM) Algorithm [PDF]

Papers to read for Sam Broder (in November)

Bayesian clinical trials [PDF]

The Neurobiology of Decision: Consensus and Controversy [PDF]

Decisions, Decisions, Decisions: Choosing a Biological Science of Choice [PDF]

Papers handed out in class

Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study [PDF]

Optimal Haplotype Block-Free Selection of Tagging SNPs for Genome-Wide Association Studies [PDF]

Supplemental 1 (Proof) [PDF]

Supplemental 2 (Informativeness) [PDF]

Thursday 10/07/10 EM Phasing Continued from previous lecture

Inference of Haplotypes from PCR-amplified Samples of Diploid Populations [PDF]

Maximum-Likelihood Estimation of Molecular Haplotype Frequencies in a Diploid Population [PDF]

Tuesday 10/12/10 Yewdell Lecture

Everything you wanted to know about viral immunology...No Holds Barred [PPT] [PDF]

Identifying cytotoxic T cell epitopes from genomic and proteomic information: "The human MHC project" [PDF]

Thursday 10/14/10 MS GWAS Paper and Intro to Wright-Fisher

MS GWAS Case Study [PPT]

MS GWAS Case Study [PDF]

Tuesday 10/19/10 Wright-Fisher and Infinite Allele Models

Wright-Fisher and the Infinite Allele Models: Two Urns Models [PDF]

Genetic Mapping in Human Disease [PDF]

Supporting Material [HTML]

Thursday 10/21/10 Urn Models and Intro to Phasing Complexity

Midterm Review Document [PDF]

Tuesday 10/26/10 Haplotype Phasing Complexity

Complexity of Pure Parsimony and Maximum Likelihood Haplotype Phasing [PDF]

Thursday 10/28/10 Hypothesis Testing

Classical Hypothesis Testing and GWAS [PDF]

Midterm handed out. Due Tuesday November 2.

Tuesday 11/2/10 Genetics of Complex Disease

Genetics of Complex Disease: Heritability [PDF]

Thursday 11/4/10 Sam Broder Guest Lecture

Towards Evidence Based Medicine [PPT]

Sam Broder Class Lecture [WVX] [Streaming]

Sam Broder Sweatbox [WVX] [Streaming]

Tuesday 11/9/10 Hypothesis Testing

Genetic Heterogeneity in Human Disease [PDF]

Missing Heritability and Strategies for Finding the Underlying Causes of Complex Disease [PDF]

Finding the missing heritability of complex diseases [PDF]

Thursday 11/11/10 Hypothesis Testing

Transmission Disequilibrium Test in GWAS [PDF]

Tuesday 11/16/10 Coalescent and more statistics

How to Interpret a Genome-wide Association Study [HTML]

Chapter 18 from Handbook of Statistical Genetics

Thursday 11/18/10 NO CLASS. Make-up to be announced; with pizza!