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MG101: Molecular Genetics from SNPs to GWAS Overview

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MG101: Molecular Genetics from SNPs to GWAS Overview

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Questions and Answers

What is the main purpose of Genome Wide Association Studies (GWAS)?

To identify SNPs associated with diseases (correct)

To conduct case-control studies

To genotype up to 1X10^6 SNPs

To create a Manhattan plot

In a GWAS, what is the significance of SNPs found to be 'associated' with a disease?

They show frequency differences between cases and controls (correct)

They are not important for further study

They are unrelated to the disease

They cause the disease

What does a Manhattan plot represent in the context of GWAS?

Statistical significance of SNP associations (correct)

Association level based on gene function

Chromosomal order of SNPs on the X-axis

Genomic locations of SNPs on the Y-axis

What is the primary focus during the Replication Phase of a GWAS?

Looking for frequency differences between cases and controls Signup and view all the answers

What is the analogy used to describe genome variations in the text?

A mixed-up puzzle Signup and view all the answers

What percentage of human genome variation is attributed to Single Nucleotide Polymorphisms (SNPs)?

~90% Signup and view all the answers

Which phase of a GWAS involves conducting case-control studies and genotyping SNPs?

Initial Discovery - Case Control Study Signup and view all the answers

What is the primary consequence of Single Nucleotide Variants (SNVs) within genes or regulatory regions?

Disease causation Signup and view all the answers

What is the main purpose of using SNVs in the context of Personalized Medicine?

Determining individual's drug response Signup and view all the answers

Which category do NonSynonymous SNVs fall into?

NonCoding NonSynonymous Signup and view all the answers

What challenging task do researchers face when unraveling the causes of complex diseases?

Finding a needle in a haystack Signup and view all the answers

What approach is taken in GWAS studies?

Hypothesis driven approach Signup and view all the answers

Which type of diseases do not follow Mendelian patterns of inheritance?

Common diseases like heart disease and type 2 diabetes Signup and view all the answers

What is a characteristic of multifactorial/complex diseases?

They are influenced by multiple genes and environmental factors Signup and view all the answers

What does GWAS stand for?

Genome-Wide Association Studies Signup and view all the answers

How are SNVs used as genotyping tools?

To identify most of the variants in disease-associated regions Signup and view all the answers

What is a common feature of common diseases like heart disease and type 2 diabetes?

They are polygenic and influenced by multiple genes Signup and view all the answers