| This workshop is an introduction to the discovery
and use of single nucleotide polymorphism (SNPs) as markers
for genetic studies. The course includes sections on the use
of human genome sequence databases, annotation of baseline (reference)
sequence data, PCR primer selection and methods for SNP discovery,
sequencing methods, and the practical application of many software
tools needed for SNP discovery. In addition, a series of short
lectures will cover approaches to candidate gene studies, an
introduction to population genetics principles, the analysis
and use of haplotypes, and the selection and use of polymorphic
markers for genotype-phenotype analysis. The variation workshop
focuses on the latest approaches for identifying SNPs and evaluating
associations and linkage disequilibrium with other genetic markers. |
| Sponsored by the NHLBI PGA/Seattle SNPs and
the Children's Discovery Institute of St. Louis Children's
Hospital |
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| 9:00-9:15 |
Introduction to SeattleSNPs PGA (ppt) |
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| 9:15-10:15 |
Finding SNPs (part 1) (ppt) |
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SNP Discovery methods
SNP Databases
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| 10:15-10:45 |
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| 10:45-12:00 |
Finding SNPs (part 2) (ppt) |
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Database extraction
Summary characteristics
SNP analysis
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| 12:00-1:15 |
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| 1:15-2:30 |
SNP Selection (ppt) |
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Linkage Disequilibrium
Haplotype inference
Haplotype tagging
SNP/Haplotype selection methods
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| 2:30-3:00 |
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| 3:00-4:15 |
Interactive Tutorial, Day 1: Database Interface |
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dbSNP
Using the HapMap and Perlegen datasets
Entrez SNP
PolyPhen
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| 9:00-10:15 |
SNP Genotyping (ppt) |
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Technology platforms
Data quality control
|
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| 10:15-10:45 |
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| 10:45-12:00 |
Association Analysis (ppt) |
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Study design
Haplotype analysis vs. SNP analysis
Analysis methods
Replication and function
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| 12:00-1:15 |
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| 1:15-2:30 |
Interactive Tutorial, Day 2: Web Tools |
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| 2:30-2:45 |
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| 2:45-4:15 |
Case Studies |
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