Question

SNPs identified by GWAS as being associated to risk of complex disease:

a) in most cases are common and have a small effect on disease risk

b) in most cases are common and have a large effect on disease risk

c) are rare (found in less than 1% of the general population)

d) have a clear effect on gene function

e) can be used to predict disease risk with high accuracy

Answer 1

Answer: Choice c, d and e

Reason: SNPs are those single nucleotide differences present in the genome which result in generation of alternate phenotype in an individual. These SNPs are not common in all individuals and hence demonstrate different genotypes in every individual. This results in generation of alternate disease and genotype pattern in all individuals. Genome-wide association studies results in clear identification of these SNPs and hence are highly accurate in nature due to high precision of the sequencing patterns.