Genetic Testing in the Genome Era An introduction that includes the most important concepts in Genetics and Genome Biology Arend Sidow, Ph.D. Professor, Departments of Pathology and Genetics, Stanford

Genetic Testing Genetic Prediction Genotype Phenotype Biology* Test

Course Philosophy and Emphasis Knowledge Time Concepts Course emphasis Scientific Process: Studies

Hierarchical Organization of Nature Functional Organization Biology Subatomic particles Atoms Organic molecules (carbon, hydrogen, oxygen, nitrogen, sulfur, phosphorous, and occasionally other elements) Macromolecules Subcellular compartments Cells Tissues Organisms Tribes and societies Physics Population Genetics Evolution Transmission Genetics Information Inheritance Individuals, families Populations Species Chemistry Cell biology Physiology Culture

Scale of Cellular and Molecular Organization 0.1mm 1mm 10µm Factory Subdivision Town Machine 100nm 1µm 10nm 1cm 1nm

Course Content Introductory Content Specific Content Basics of Biology Cell Biology: The Machinery How cells are organized and work Genetics: The Information How the machinery is encoded in the genome and how the genome is inherited Specific Content

Hierarchical Organization of Nature Functional Organization Biology Subatomic particles Atoms Organic molecules (carbon, hydrogen, oxygen, nitrogen, sulfur, phosphorous, and occasionally other elements) Macromolecules Subcellular compartments Cells Tissues Organisms Tribes and societies Physics Population Genetics Evolution Transmission Genetics Information Inheritance Individuals, families Populations Species Chemistry Cell biology Physiology Culture

Course Content Introductory Content Specific Content Genetic Variation and Disease Variation and Diversity Types of mutations and the dynamics of variation in the population (Molecular) phenotypes What genetic variation does to The Machinery and how it causes disease Basics of Biology Cell Biology: The Machinery How cells are organized and work Genetics: The Information How the machinery is encoded in the genome and how the genome is inherited Specific Content DNA sequencing and related approaches Sample Preparation Chemistry Bioinformatics Genetic Testing Types of tests Test interpretation Testing in the future

Attributions Slide Content Link to file Attribution 5 HeLa cells https://commons.wikimedia.org/w/index.php?curid=29540602 By National Institutes of Health (NIH) - National Institutes of Health (NIH), Public Domain, Crowded cytosol https://commons.wikimedia.org/w/index.php?curid=4762672 By TimVickers - Own work by uploader, based upon simlar illustrations in Goodsell DS (June 1991). "Inside a living cell". Trends Biochem. Sci. 16 (6): 203–6. DOI:10.1016/0968-0004(91)90083-8. PMID 1891800., Public Domain, ATP synthase https://commons.wikimedia.org/w/index.php?curid=1618502 By Alex.X - enWiki (PDB.org for coordinate), CC BY-SA 3.0, ATP https://commons.wikimedia.org/w/index.php?curid=697142 Public Domain