probability of the strength of association between a given allele and a disease

the strength of association between a gene variant and a disease, taking into account the number of individuals with a healthy allele and disease allele at each loci

genetic conditions caused by mutation in a single gene

genetic variants that are challenging to find, due to their small impact on the phenotype and low frequency in the population

genetic conditions that are already identified, due to the high frequency and large impact on phenotype

where most of human heritability lies, common variations that have a small impact on an individual’s phenotype

a type of study analysing genetic variants across thousands of genomes, aiming to find variants that are linked to a disease of interest

a method used to detect DNA sequences, allowing 1-2 million SNPs to be studied simultaneously; due to the low cost, these are currently favoured for GWA studies

a statistical method of replacing missing data with a substitute value, such as identifying tag SNPs

a representative SNP in a region of the genome exhibiting high linkage disequilibrium, representing a group of SNPs in a haplotype

participants in this style of study are divided into two groups, one with the condition of interest and one without the condition (a control group); used in GWA studies

by recruiting as many participants as possible, and then phenotyping them, this study design can identify many different conditions; some very rare conditions may not be able to reach the statistical threshold required for association between SNP and condition

there are genetic differences between populations, and GWA studies may identify these if the condition of interest is more common in one population; having a homogeneous study population would remove this, however it is not possible as the size of the population would be limited