Human Genetics

  1. Human Genetic Variation
    1. Sources of Genetic Variation
      1. Mutational Processes
        1. Spontaneous Mutations
          1. Induced Mutations
            1. Mutational Hotspots
              1. Mutation Rates
              2. Recombination Events
                1. Meiotic Crossing Over
                  1. Gene Conversion
                    1. Recombination Frequencies
                      1. Linkage Disequilibrium
                    2. Types of Genetic Variants
                      1. Single Nucleotide Variants
                        1. SNP Distribution
                          1. Functional Consequences
                            1. Population Frequencies
                              1. Linkage Disequilibrium Patterns
                              2. Insertion-Deletion Variants
                                1. Small Indels
                                  1. Large Indels
                                    1. Frameshift Effects
                                      1. Repeat Expansions
                                      2. Copy Number Variations
                                        1. CNV Detection Methods
                                          1. Pathogenic CNVs
                                            1. Benign CNVs
                                              1. Population Variation
                                              2. Structural Variants
                                                1. Balanced Rearrangements
                                                  1. Unbalanced Rearrangements
                                                    1. Complex Rearrangements
                                                      1. Formation Mechanisms
                                                    2. Mutation Mechanisms
                                                      1. DNA Damage Sources
                                                        1. Endogenous Damage
                                                          1. Environmental Mutagens
                                                            1. Radiation Effects
                                                              1. Chemical Mutagens
                                                              2. Mutation Types
                                                                1. Point Mutations
                                                                  1. Frameshift Mutations
                                                                    1. Large-Scale Mutations
                                                                      1. Chromosomal Rearrangements
                                                                      2. DNA Repair Systems
                                                                        1. Base Excision Repair
                                                                          1. Nucleotide Excision Repair
                                                                            1. Mismatch Repair
                                                                              1. Double-Strand Break Repair
                                                                                1. Repair Deficiency Syndromes

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                                                                            4. Patterns of Inheritance

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                                                                            6. Population Genetics