Biostatistics 666: Introductory Lecture - Revision history

Goncalo at 14:14, 7 September 2010

2010-09-07T14:14:16Z

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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.

			== Recommended Reading ==

			If you need a refresher or introduction to molecular genetics, I recommend:

			Human Molecular Genetics by ''Tom Strachan and Andrew Read'' [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=hmg Web Edition at NCBI]

			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]

	== Slides ==		== Slides ==

	[[Media:666.01.pdf\|Slides in PDF Format]]		[[Media:666.01.pdf\|Slides in PDF Format]]

Goncalo: /* Objective */

2010-09-07T10:01:40Z

Objective

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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.

	There are two important sets of questions:		There are two important sets of questions...

			=== Describing Genetic Variation ===

	* 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.

			=== Connecting Genetic Variation to Phenotype ===

	* 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:

Goncalo: /* Objective */

2010-09-07T09:59:57Z

Objective

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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:

	#. '''Are there genes influencing the trait of interest?''' This sort of evidence can be investigated in twin and family studies, for example, by examining if close relatives (such as identical twins) show outcomes that are more similar than those of more distant relatives (such as fraternal twins).		# '''Are there genes influencing the trait of interest?''' This sort of evidence can be investigated in twin and family studies, for example, by examining if close relatives (such as identical twins) show outcomes that are more similar than those of more distant relatives (such as fraternal twins).
			# '''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.

	== Slides ==		== Slides ==

	[[Media:666.01.pdf\|Slides in PDF Format]]		[[Media:666.01.pdf\|Slides in PDF Format]]

Goncalo: /* Objective */

2010-09-07T09:58:35Z

Objective

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	== Objective ==		== Objective ==

	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~~. There are two important sets of questions~~.		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.

	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.~~		There are two important sets of questions:

	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:		* 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.

			* 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:

	#. '''Are there genes influencing the trait of interest?''' This sort of evidence can be investigated in twin and family studies, for example, by examining if close relatives (such as identical twins) show outcomes that are more similar than those of more distant relatives (such as fraternal twins).		#. '''Are there genes influencing the trait of interest?''' This sort of evidence can be investigated in twin and family studies, for example, by examining if close relatives (such as identical twins) show outcomes that are more similar than those of more distant relatives (such as fraternal twins).

Goncalo: /* Objective */

2010-09-07T09:57:49Z

Objective

← Older revision		Revision as of 05:57, 7 September 2010
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	== Objective ==		== Objective ==

	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.		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. There are two important sets of questions.

			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.

			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:

			#. '''Are there genes influencing the trait of interest?''' This sort of evidence can be investigated in twin and family studies, for example, by examining if close relatives (such as identical twins) show outcomes that are more similar than those of more distant relatives (such as fraternal twins).

			#. '''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.

	== Slides ==		== Slides ==

	[[Media:666.01.pdf\|Slides in PDF Format]]		[[Media:666.01.pdf\|Slides in PDF Format]]

Goncalo: /* Slides */

2010-01-07T04:38:53Z

Slides

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	== Slides ==		== Slides ==

	[[~~File~~:666.01.pdf\|Slides in PDF Format]]		[[Media:666.01.pdf\|Slides in PDF Format]]

Goncalo: /* Slides */

2010-01-07T04:28:21Z

Slides

← Older revision		Revision as of 00:28, 7 January 2010
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	== Slides ==		== Slides ==

			[[File:666.01.pdf\|Slides in PDF Format]]

Goncalo: Created page with '== Objective == This lecture introduces course objectives, which are to provide students with a working understanding of the techniques commonly used by statistical geneticists.…'

2010-01-07T03:53:23Z

Created page with '== Objective == This lecture introduces course objectives, which are to provide students with a working understanding of the techniques commonly used by statistical geneticists.…'

New page

== Objective ==

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.

== Slides ==