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GENE 418: Human Genetics
> Mendelian disorders > Flashcards
Mendelian disorders Flashcards
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GENE 418: Human Genetics
(31 decks)
Seminar paper 1: mtDNA
Seminar paper 2: Gaucher disease
Seminar paper 3: pseudogenes
Seminar paper 4: minisatellites
Overview
Mitochondrial genome
Cytogenetics
Chromosome banding
Sequence of nuclear genome
Computer programs to help study the nuclear genome
Features of human genes
Unique fraction of the human genome
Moderately repetitive fraction of the human genome
Highly repetitive fraction of the human genome
Genome shaping mechanisms
Overview of genetic disorders
Mendelian disorders
Positional cloning
Molecular markers
Determining linkage
Positional cloning - genes in critical region
Position independent gene identification
Genome wide association studies
Clinical cytogenetics
Structural and numerical chromosome abnormalities
Mixoploidy
Copy number variants
Genetic testing
Genetic testing - screening
Evaluation of genetic tests
Disease brochures
