Advantages and Limitation of GWAS

4 Pages Posted: 13 Aug 2018

See all articles by Paul Cottrell

Paul Cottrell

affiliation not provided to SSRN

Date Written: March 3, 2018


With the human genome being sequenced we can perform studies on single nucleotide polymorphisms (SNP) of the whole genome. This sort of study is called genome-wide association studies (GWAS). The goal with GWAS is to make associations of SNPs and diseases. Unfortunately, there are challenges to accurately make these associations between SNPs and diseases. Some have proposed that current biostatistical analysis paradigms need to be more holistic to recognize the true complexity of the genotype-phenotype relationship (Moore, Asselbergs and Williams, 2010). In this essay I go over some of the advantages and limitations of GWAS pertaining to sample size, variant frequency and data interpretation.

Keywords: GWAS, SNP, Genome, Single Nucleotide Polymorphisms, Human Genome

Suggested Citation

Cottrell, Paul, Advantages and Limitation of GWAS (March 3, 2018). Available at SSRN: or

Paul Cottrell (Contact Author)

affiliation not provided to SSRN

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