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?

<p>Looking for frequency differences between cases and controls (A)</p> Signup and view all the answers

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

<p>A mixed-up puzzle (B)</p> Signup and view all the answers

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

<p>~90% (B)</p> Signup and view all the answers

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

<p>Initial Discovery - Case Control Study (B)</p> Signup and view all the answers

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

<p>Disease causation (D)</p> Signup and view all the answers

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

<p>Determining individual's drug response (A)</p> Signup and view all the answers

Which category do NonSynonymous SNVs fall into?

<p>NonCoding NonSynonymous (D)</p> Signup and view all the answers

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

<p>Finding a needle in a haystack (C)</p> Signup and view all the answers

What approach is taken in GWAS studies?

<p>Hypothesis driven approach (D)</p> Signup and view all the answers

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

<p>Common diseases like heart disease and type 2 diabetes (C)</p> Signup and view all the answers

What is a characteristic of multifactorial/complex diseases?

<p>They are influenced by multiple genes and environmental factors (D)</p> Signup and view all the answers

What does GWAS stand for?

<p>Genome-Wide Association Studies (B)</p> Signup and view all the answers

How are SNVs used as genotyping tools?

<p>To identify most of the variants in disease-associated regions (B)</p> Signup and view all the answers

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

<p>They are polygenic and influenced by multiple genes (D)</p> Signup and view all the answers

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