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| This lecture introduces course objectives, which are to provide students with a working understanding of the techniques commonly used by statistical geneticists. These techniques can server as building blocks for the implementation of more complex, customized analyses. In addition, the lecture provides a brief overview of some of the key questions that statistical genetics tries to answer. | | This lecture introduces course objectives, which are to provide students with a working understanding of the techniques commonly used by statistical geneticists. These techniques can server as building blocks for the implementation of more complex, customized analyses. In addition, the lecture provides a brief overview of some of the key questions that statistical genetics tries to answer. |
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− | There are two important sets of questions: | + | There are two important sets of questions... |
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| + | === Describing Genetic Variation === |
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| * One set of questions concerns the description and characterization of genetic data in the population. This will include estimation of allele and haplotype frequencies, tests of Hardy-Weinberg equilibrium, reconstruction of DNA sequences using small, fragmentary sequences as input. These analyses are an essential step in the quality control and assessment of any genetic dataset and a necessary and important first step in the analysis of any dataset. | | * One set of questions concerns the description and characterization of genetic data in the population. This will include estimation of allele and haplotype frequencies, tests of Hardy-Weinberg equilibrium, reconstruction of DNA sequences using small, fragmentary sequences as input. These analyses are an essential step in the quality control and assessment of any genetic dataset and a necessary and important first step in the analysis of any dataset. |
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| + | === Connecting Genetic Variation to Phenotype === |
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| * Another key, and perhaps more interesting, set of questions concerns those that help clarify the relationship between DNA sequences and biological outcomes, including human disease but also a variety of other traits. This second set of questions can conveniently be grouped into three: | | * Another key, and perhaps more interesting, set of questions concerns those that help clarify the relationship between DNA sequences and biological outcomes, including human disease but also a variety of other traits. This second set of questions can conveniently be grouped into three: |
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| # '''Where are the genetic variants that influence a trait?''' These types of analysis try to assign a specific chromosomal location to the variants that influence the trait. Traditionally, this step relied on linkage analysis but association analysis and related approaches are now more common. | | # '''Where are the genetic variants that influence a trait?''' These types of analysis try to assign a specific chromosomal location to the variants that influence the trait. Traditionally, this step relied on linkage analysis but association analysis and related approaches are now more common. |
| # '''What are the specific variants that influence a trait?''' This is, ultimately, the most interesting question but is often the hardest questions to answer. It requires exhaustive measurement of DNA variation in a region of interest and, often, comparison of results across different populations and follow-up laboratory experiments. | | # '''What are the specific variants that influence a trait?''' This is, ultimately, the most interesting question but is often the hardest questions to answer. It requires exhaustive measurement of DNA variation in a region of interest and, often, comparison of results across different populations and follow-up laboratory experiments. |
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| + | == Recommended Reading == |
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| + | If you need a refresher or introduction to molecular genetics, I recommend: |
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| + | Human Molecular Genetics by ''Tom Strachan and Andrew Read'' [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=hmg Web Edition at NCBI] |
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| + | Lander and Schork (1994) "Genetic Dissection of Complex Traits" ''Science'' '''265''':2037-48 [http://www.sciencemag.org/cgi/rapidpdf/265/5181/2037.pdf PDF at Science Magazine] |
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| == Slides == | | == Slides == |
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| [[Media:666.01.pdf|Slides in PDF Format]] | | [[Media:666.01.pdf|Slides in PDF Format]] |