Genetics Discovery Methods

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What is Epidemiology?
The study of the distribution of diseases in populations and of factors that influence the occurrence of disease
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What is genetic epidemiology
The study of the joint action of genes and environmental factors that influence the occurrence of disease and their patterns of inheritance in families
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What is Descriptive Epidemiology?
Describing the disease and noticing that the DNA Genotype contributes to the DNA Phenotype as well as prevalence from different populations
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what is familial aggregation?
understanding the clustering of different traits within a given family
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What did heritability studies show?
Showed that genes and the environment play a part in the disease or trait a person has
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What did segregation analyses do
estimated the genetic model of a disease by looking at the multigenerational family data
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What is the correct order for the historical overview of gene discovery?
Descriptive Epidemiology, familial aggregation, heritability studies, segregation analyses
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Is candidate gene studies hypotheses or not driven?
Hypothesis- driven
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What is candidate gene studies based on?
current understanding of biology and pathophysiology of the disease
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Categorical and Quantitative are examples of what?
Outcomes
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Exposure is to do with genetic variation (copy number) true or false
True
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Design's like cohort and case-control are for what type of design
Observational
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What does SNP Stand for?
Single Nucleotide Polymorphisms
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0 copy is...
commom homozygote
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1 Copy is ....
Rare Homozygote
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2 copy is .....
Heterozygote
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If you did a quantitative trait cohort based analysis e.g. against BMi, what stats test would you do?
Linear Regression Analysis (P Value)
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If you were to do a case control status analysis e.g. disease and cut point what stats test would you do?
Logistic regression analysis (P value + odds value)
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What does this describe? 20,000-25,000 genes, used to identify the 3 billion base pairs of our genome, to store information for all public
Human Genome Project
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How many populations does the HapMap Project phase 2 include
4
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What does the HapMap Project show?
the genetic variations located within a particular gene
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The main advantage of the HatMap Project is that it takes into consideration LD, but what is complete LD?
When the genetic variations are inherited together
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It can only look at common variants not rare ones is a disadvantage of what project?
HapMap Project
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Co-founding is a disadvantage of candidate gene studies, but what is it?
when there is a third variable that affects exposure and disease outcomes and gives false findings e.g. ethnicity
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what can selection bias cause
population stratification
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When can you cause information bias?
Misclassification of exposure of disease
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Other cards in this set

Card 2

Front

What is genetic epidemiology

Back

The study of the joint action of genes and environmental factors that influence the occurrence of disease and their patterns of inheritance in families

Card 3

Front

What is Descriptive Epidemiology?

Back

Preview of the front of card 3

Card 4

Front

what is familial aggregation?

Back

Preview of the front of card 4

Card 5

Front

What did heritability studies show?

Back

Preview of the front of card 5
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