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Study Notes
Lecture 1: Introduction to Genomics
- Course: Introduction to Genomics I (PY5131)
- Instructor: Dr. AK Snabaitis
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Learning Objectives (for Introduction to Genomics):
- Define "human genome"
- Understand genomic disorders
- Explain DNA and chromosome structure
- Describe chromosomal disorders
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Genomics:
- The complete set of genetic material in an organism.
- Studies the structure of genes and their location in the genome.
- Includes gene expression mechanisms.
- Also explores proteomics, studying protein expression and modification.
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Human Genome:
- Sequenced in 2003.
- Contains approximately 3 billion base pairs.
- Estimated to have around 30,000 genes.
- Only ~10% of mammalian DNA encodes genes; the rest is non-coding.
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Genomic Applications:
- Pharmacogenomics: Combining genomics with pharmaceuticals to create individualized therapies. This involves analyzing an individual's genome to understand their response to drugs and identify specific gene variants for tailored treatments.
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Understanding Diseases:
- Identifying the inherited basis for congenital diseases.
- Understanding the risk of developing cancer and neurological disorders.
- Predicting chances of developing specific diseases.
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Types of Mutations:
- Germline Mutations: Occur in the germline (sex cells), potentially affecting all cells.
- Somatic Mutations: Occur in somatic cells (body cells) and don't affect future generations; can still cause diseases.
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Description
This quiz covers the foundational concepts of the human genome and genomic disorders as introduced in Lecture 1 of the course 'Introduction to Genomics I'. You'll explore DNA structure, chromosomal disorders, and applications such as pharmacogenomics, providing a comprehensive understanding of genomic science and its implications.
