BIOC14H3 Lecture Notes - Lecture 3: Developmental Coordination Disorder, Variable Number Tandem Repeat, Sickle-Cell Disease
26 May 2018
School
Department
Course
Professor
1
Lecture 3
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2
Lecture 3 Objectives
• SNP Genotyping
• Techniques
• Example: Microarrays
• Statistical analysis
• GWAS catalogue & clinical applications
• Example: Early birds or night owls
• Clinical & negative implications of HGP
• Simple inheritance of genetic traits
• Example: PKU
• Mendelian inheritance
• Genetic linkages and recombination
• DNA fingerprinting
• Microsatellite analysis
• Examples: Huntington disease, FOXP2
• Gene conversion and chromosome translocation
• Example: Neurofibromatosis 1
• Genetic imprinting
• Inheritance of mitochondrial DNA
Chapter 4
Chapter 5
ß Covered last class
ß Covered last class
epigenetic related research
female line
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Genome Wide Association Study (GWAS)
Major Steps in a GWAS:
1. Collect samples - Case vs Control e.g. 3000 patients vs 3000
controls
2. SNP Genotyping: Whole genome SNP microarray
3. Statistical Analysis
4. Replication
3
Goal is to rapidly scan various markers (SNPs) across the genome
and find associations between genetic variations and clinical
conditions
GWAS has identified a number of different SNPs associated with disesase. No individual chromosome is spared. There are a number of
confounding variables that can affect disease perception you might not have but GWAS type studies kind of point to the fact that you do, if you dont
watch out for confounding variable. mutations that you find in individuals gametes (the ones going through IBF) you need to know and be aware of
the mothers body condition and genetic makeup. The frequency of some SNPs are very low, so you need alot of data samples (people) to be fully
aware of a rare SNPs effects.
in an another external cohort of samples, so that its not something specfiic to the sample you chose earlier.
Its possible that a specific disease may be due to racial background, or spatial orientation.
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Document Summary
Lecture 3 objectives: snp genotyping, techniques, example: microarrays, statistical analysis, gwas catalogue & clinical applications, example: early birds or night owls, clinical & negative implications of hgp. Covered last class: simple inheritance of genetic traits, example: pku, mendelian inheritance, genetic linkages and recombination, dna fingerprinting, microsatellite analysis, examples: huntington disease, foxp2, gene conversion and chromosome translocation, example: neurofibromatosis 1, genetic imprinting. Inheritance of mitochondrial dna female line epigenetic related research. Gwas has identified a number of different snps associated with disesase. The frequency of some snps are very low, so you need alot of data samples (people) to be fully aware of a rare snps effects. Collect samples - case vs control e. g. 3000 patients vs 3000 controls. Replication in an another external cohort of samples, so that its not something specfiic to the sample you chose earlier. Its possible that a specific disease may be due to racial background, or spatial orientation.
