Genomic studies: theory

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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.]
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