18 Questions
What is a genetic variant that alters gene function and affects only a small proportion of the population?
Rare variant
What type of genetic mutations occur after conception?
De novo mutations
In terms of complex traits, what does the comparison between twin and SNP heritability estimates provide?
Useful information
If SNP heritability estimate results are similar to twin results, what does this suggest?
Heritability estimates are entirely due to additive effects of common variants
What does a small SNP heritability compared to twin heritability estimates indicate?
Need to look beyond current GWAS techniques
What is the fastest-moving area of science?
Genetics
Why is it difficult to find associations in Genome-Wide Association studies (GWA)?
Gene variants that are common do not individually account for a large proportion of variance.
What is the 'missing heritability' gap in genetic studies?
It refers to the unexplained portion of heritability even after considering all known SNP associations.
What percentage of variance is typically predicted by the largest Genome-Wide Association (GWA) associations per SNP?
Approximately 1% per SNP.
What methodology has been developed to address the 'missing heritability' issue in genetic studies?
Genome-wide Complex Trait Analysis (GCTA).
How does sample size impact the ability to detect effects of Single Nucleotide Polymorphisms (SNPs) in genetic studies?
Increasing sample size improves the ability to reliably detect effects of SNPs.
What would have been the conclusion about common SNPs' role in IQ and EA variation if scientists had not pooled resources for larger samples?
They would have erroneously concluded that common SNPs account for only about 3% of the variation.
What is the difference between GCTA SNP heritability and twin study heritability for cognitive abilities?
GCTA SNP heritability is about half of twin study heritability for cognitive abilities.
What does univariate genetic analysis using SNP heritability aim to identify?
The degree of variance accounted for by SNPs.
Why does GCTA SNP heritability need extremely large sample sizes?
Because it covers only common SNPs and additive genetic effects.
What are the limitations of SNP microarrays in univariate genetic analysis?
They are limited to what is sampled on the microarrays, which can vary in coverage.
Why does GCTA SNP heritability underestimates heritability?
Because it covers only common SNPs and additive genetic effects.
What genetic components are not covered by GCTA SNP heritability?
Rare variants and non-additive effects.
Explore the impact and significance of rare genetic variants in genomic research for complex traits. Learn about how rare variants can have a large effect on individuals and contribute to twin heritability estimates.
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