Difference between revisions of "Genomic studies: theory"
| (One intermediate revision by one other user not shown) | |||
| Line 1: | Line 1: | ||
| − | '''We have the genomic sequence, now what?''' | + | == '''We have the genomic sequence, now what?''' == |
During this class, disease gene identification strategies for human hereditary conditions will be taken as example to illustrate techniques of annotation of raw DNA sequence. | During this class, disease gene identification strategies for human hereditary conditions will be taken as example to illustrate techniques of annotation of raw DNA sequence. | ||
| Line 6: | Line 6: | ||
'''Quick review of previously-acquired notions''' | '''Quick review of previously-acquired notions''' | ||
| − | DNA variations | + | * DNA variations |
| − | Mutations | + | * Mutations |
| − | Rare variants or rare changes | + | * Rare variants or rare changes |
| − | Polymorphisms | + | * Polymorphisms |
| − | Microsatellites | + | * Microsatellites |
| − | Microsatellites | + | * Microsatellites |
| − | SNPs | + | * SNPs |
| − | Microdeletions or microinsertions | + | * Microdeletions or microinsertions |
| − | CNVs | + | * CNVs |
| − | DNA Markers | + | * DNA Markers |
| − | Microsatellite mapping | + | * Microsatellite mapping |
| − | Microsatellite mapping | + | * Microsatellite mapping |
'''Position-independent gene identification''' | '''Position-independent gene identification''' | ||
| − | [1. Starting from the protein product] | + | * [1. Starting from the protein product] |
| − | [2. Starting from an animal model] | + | * [2. Starting from an animal model] |
| − | [3. The “candidate gene” approach] | + | * [3. The “candidate gene” approach] |
| − | Positional cloning (position-dependent gene identification) | + | * Positional cloning (position-dependent gene identification) |
| − | Linkage and haplotype analyses | + | * Linkage and haplotype analyses |
| − | Synteny maps | + | * Synteny maps |
| − | Chromosomal anomalies | + | * Chromosomal anomalies |
'''Positional cloning''' | '''Positional cloning''' | ||
| − | [Step 1: define the position] | + | * [Step 1: define the position] |
| − | [Step 2: define the genes within the interval] | + | * [Step 2: define the genes within the interval] |
| − | [Step 3: prioritize the candidates] | + | * [Step 3: prioritize the candidates] |
| − | [Step 4: obtain the template DNA] | + | * [Step 4: obtain the template DNA] |
| − | [Step 5: Find the DNA variants, etc.] | + | * [Step 5: Find the DNA variants, etc.] |
Latest revision as of 13:34, 16 September 2009
We have the genomic sequence, now what?
During this class, disease gene identification strategies for human hereditary conditions will be taken as example to illustrate techniques of annotation of raw DNA sequence.
Outline of the class:
Quick review of previously-acquired notions
- DNA variations
- Mutations
- Rare variants or rare changes
- Polymorphisms
- Microsatellites
- Microsatellites
- SNPs
- Microdeletions or microinsertions
- CNVs
- DNA Markers
- Microsatellite mapping
- Microsatellite mapping
Position-independent gene identification
- [1. Starting from the protein product]
- [2. Starting from an animal model]
- [3. The “candidate gene” approach]
- Positional cloning (position-dependent gene identification)
- Linkage and haplotype analyses
- Synteny maps
- Chromosomal anomalies
Positional cloning
- [Step 1: define the position]
- [Step 2: define the genes within the interval]
- [Step 3: prioritize the candidates]
- [Step 4: obtain the template DNA]
- [Step 5: Find the DNA variants, etc.]
