Gene Testing Flashcards Preview

Fundamentals of Molecular Medicine > Gene Testing > Flashcards

Flashcards in Gene Testing Deck (27):
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Goals for Screening Genetic Disorders

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Population Screening

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Diagnostic Screening

 

 

Diagnostic— Expensive and Comprehensive. 

Statistics give us some degree of confidence for diagnostic testing.

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Elements of a Good Test Design 

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Concept of False Positives via Gaussian Curve

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False Positive and False Negative

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Specificity vs. Sensitivity

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Positive Predictive Value vs. Negative Predictive Value

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Genetic Diseases and Modes of Inheritence 

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5 Key Things to Know about any Test

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Heterozygote Screening

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Presymptomatic Diagnoses

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Public Guidelines for Heterozygote Screening

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Direct Genetic Screening 

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Exome Sequencing 

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Prenatal Diagnosis of Genetic Disorders

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NIPT pt. I

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NIPT Pt. II

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What NIPT can Test For

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NIPT and Inborn errors of Metabolism 

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Personalized Medicine 

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Personalized medicine and haplotypes

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Key to Precision Medicine 

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Summary I

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Summary II

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Summary III 

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Summary IV

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