Rare Variants in Genomic Research

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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 Signup and view all the answers

What does a small SNP heritability compared to twin heritability estimates indicate?

Need to look beyond current GWAS techniques Signup and view all the answers

What is the fastest-moving area of science?

Genetics Signup and view all the answers

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. Signup and view all the answers

What is the 'missing heritability' gap in genetic studies?

It refers to the unexplained portion of heritability even after considering all known SNP associations. Signup and view all the answers

What percentage of variance is typically predicted by the largest Genome-Wide Association (GWA) associations per SNP?

Approximately 1% per SNP. Signup and view all the answers

What methodology has been developed to address the 'missing heritability' issue in genetic studies?

Genome-wide Complex Trait Analysis (GCTA). Signup and view all the answers

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. Signup and view all the answers

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. Signup and view all the answers

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. Signup and view all the answers

What does univariate genetic analysis using SNP heritability aim to identify?

The degree of variance accounted for by SNPs. Signup and view all the answers

Why does GCTA SNP heritability need extremely large sample sizes?

Because it covers only common SNPs and additive genetic effects. Signup and view all the answers

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. Signup and view all the answers

Why does GCTA SNP heritability underestimates heritability?

Because it covers only common SNPs and additive genetic effects. Signup and view all the answers

What genetic components are not covered by GCTA SNP heritability?

Rare variants and non-additive effects. Signup and view all the answers

Rare Variants in Genomic Research

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