Medical Genetics

  1. Molecular Genetics and Diagnostics
    1. Molecular Basis of Genetic Disease
      1. Loss-of-Function Mutations
        1. Null Alleles
          1. Reduced Function
            1. Protein Truncation
            2. Gain-of-Function Mutations
              1. Enhanced Activity
                1. New Function
                  1. Constitutive Activation
                  2. Dominant Negative Mutations
                    1. Mutant Protein Interference
                      1. Multimeric Proteins
                        1. Structural Proteins
                        2. Haploinsufficiency
                          1. Single Copy Insufficient
                            1. Dosage-Sensitive Genes
                              1. Developmental Genes
                              2. Allelic Heterogeneity
                                1. Multiple Mutations Same Gene
                                  1. Phenotypic Variation
                                    1. Mutation Spectrum
                                    2. Locus Heterogeneity
                                      1. Multiple Genes Same Phenotype
                                        1. Genetic Heterogeneity
                                          1. Phenocopies
                                          2. Modifier Genes
                                            1. Phenotype Modulation
                                              1. Genetic Background Effects
                                                1. Epistatic Interactions
                                              2. Laboratory Techniques in Medical Genetics
                                                1. DNA Extraction and Quantification
                                                  1. Sample Types
                                                    1. Extraction Methods
                                                      1. Quality Assessment
                                                        1. Quantification Methods
                                                        2. Polymerase Chain Reaction
                                                          1. Conventional PCR
                                                            1. Primer Design
                                                              1. Thermal Cycling
                                                                1. Product Analysis
                                                                2. Real-Time PCR
                                                                  1. Fluorescent Detection
                                                                    1. Quantitative Analysis
                                                                      1. Melting Curve Analysis
                                                                      2. Reverse Transcription PCR
                                                                        1. RNA Template
                                                                          1. cDNA Synthesis
                                                                            1. Expression Analysis
                                                                            2. Digital PCR
                                                                              1. Absolute Quantification
                                                                                1. Rare Variant Detection
                                                                                  1. Copy Number Analysis
                                                                                2. Gel Electrophoresis
                                                                                  1. Agarose Gel Electrophoresis
                                                                                    1. DNA Separation
                                                                                      1. Size Determination
                                                                                        1. Visualization Methods
                                                                                        2. Polyacrylamide Gel Electrophoresis
                                                                                          1. High Resolution
                                                                                            1. Small Fragment Analysis
                                                                                              1. Protein Separation
                                                                                            2. Sanger Sequencing
                                                                                              1. Principles and Workflow
                                                                                                1. Chain Termination Method
                                                                                                  1. Fluorescent Labeling
                                                                                                    1. Capillary Electrophoresis
                                                                                                    2. Data Interpretation
                                                                                                      1. Chromatogram Analysis
                                                                                                        1. Quality Assessment
                                                                                                          1. Variant Identification
                                                                                                        2. Fluorescence In Situ Hybridization
                                                                                                          1. Probe Design
                                                                                                            1. Target Specificity
                                                                                                              1. Fluorescent Labels
                                                                                                                1. Probe Types
                                                                                                                2. Applications in Diagnosis
                                                                                                                  1. Deletion Detection
                                                                                                                    1. Translocation Analysis
                                                                                                                      1. Copy Number Assessment
                                                                                                                    2. Chromosomal Microarray Analysis
                                                                                                                      1. Array Comparative Genomic Hybridization
                                                                                                                        1. Comparative Analysis
                                                                                                                          1. Copy Number Detection
                                                                                                                            1. Resolution Limits
                                                                                                                            2. SNP Arrays
                                                                                                                              1. Genotype Analysis
                                                                                                                                1. Copy Number Detection
                                                                                                                                  1. Loss of Heterozygosity
                                                                                                                                  2. Detection of CNVs
                                                                                                                                    1. Pathogenic CNVs
                                                                                                                                      1. Benign CNVs
                                                                                                                                        1. Clinical Interpretation
                                                                                                                                      2. Next-Generation Sequencing
                                                                                                                                        1. Whole Exome Sequencing
                                                                                                                                          1. Exome Capture
                                                                                                                                            1. Coding Region Analysis
                                                                                                                                              1. Variant Filtering
                                                                                                                                              2. Whole Genome Sequencing
                                                                                                                                                1. Complete Genome Coverage
                                                                                                                                                  1. Structural Variants
                                                                                                                                                    1. Non-coding Regions
                                                                                                                                                    2. Targeted Panel Sequencing
                                                                                                                                                      1. Gene Panel Design
                                                                                                                                                        1. Focused Analysis
                                                                                                                                                          1. Clinical Applications
                                                                                                                                                          2. Data Analysis and Interpretation
                                                                                                                                                            1. Bioinformatics Pipelines
                                                                                                                                                              1. Variant Annotation
                                                                                                                                                                1. Clinical Reporting
                                                                                                                                                              2. Southern Blotting
                                                                                                                                                                1. Principle and Applications
                                                                                                                                                                  1. DNA Transfer
                                                                                                                                                                    1. Hybridization Detection
                                                                                                                                                                      1. Repeat Expansion Analysis
                                                                                                                                                                    2. Multiplex Ligation-dependent Probe Amplification
                                                                                                                                                                      1. Principle and Applications
                                                                                                                                                                        1. Copy Number Detection
                                                                                                                                                                          1. Methylation Analysis
                                                                                                                                                                            1. Point Mutation Detection
                                                                                                                                                                          2. Quality Control and Validation in Genetic Testing
                                                                                                                                                                            1. Laboratory Standards
                                                                                                                                                                              1. Proficiency Testing
                                                                                                                                                                                1. Method Validation
                                                                                                                                                                                  1. Result Verification

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                                                                                                                                                                              5. Clinical Genetics Practice