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Questions and Answers
What do genome-wide association studies (GWAS) involve testing?
What do genome-wide association studies (GWAS) involve testing?
- Genetic variants across the genomes of many individuals (correct)
- Only single-nucleotide variants (SNVs)
- Non-genetic factors in disease predisposition
- Biological pathways in isolation
What do single-nucleotide polymorphisms (SNPs) refer to?
What do single-nucleotide polymorphisms (SNPs) refer to?
- Genetic variants with no biological relevance to disease
- SNVs that occur at an appreciable frequency in a population (correct)
- Rare genetic variants
- Non-genetic factors influencing disease susceptibility
What is a prominent criticism of GWAS?
What is a prominent criticism of GWAS?
- GWAS implicate the entire genome in disease predisposition
- Concerns that most association signals reflect variants and genes with no direct biological relevance to disease (correct)
- GWAS only identify rare genetic variants
- GWAS have no impact on clinical care
What have GWAS revolutionized in the field of complex disease genetics?
What have GWAS revolutionized in the field of complex disease genetics?
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What is the relevance of performing more GWAS according to the text?
What is the relevance of performing more GWAS according to the text?
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Study Notes
Genome-Wide Association Studies (GWAS)
- Involve testing the entire genome to identify genetic variations associated with a specific disease or trait
- Typically, GWAS involve scanning the genome for single-nucleotide polymorphisms (SNPs)
Single-Nucleotide Polymorphisms (SNPs)
- Refer to small, individual variations in the DNA sequence that occur when a single nucleotide (building block of DNA) is changed
- SNPs are the most common type of genetic variation and can affect how genes function
Criticisms of GWAS
- A prominent criticism is that GWAS may not identify the true causal variant, but rather a correlated variant
Impact of GWAS on Complex Disease Genetics
- GWAS have revolutionized the field of complex disease genetics by identifying thousands of genetic variants associated with complex diseases
- These findings have provided new insights into the biological pathways underlying complex diseases
Relevance of Performing More GWAS
- Performing more GWAS is important as it can increase the power to detect genetic associations and identify new variants associated with complex diseases
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Description
Test your knowledge of the benefits and limitations of genome-wide association studies (GWAS) with this quiz. Explore the key concepts of genotype-phenotype associations and the impact of GWAS on complex disease genetics.
