Genetic architecture

A histogram showing the distribution of 130 rare variants in a population of 10,000 individuals. The x-axis shows the number of variants per individual; the y-axis shows the number of people with a certain number of risk variants. The number of 130 variants was chosen as it leads to ~1% of the population having 5 or more variants. And this number of variants is needed to be affected with a probability of 95% or higher. In summary, 130 variants are needed for a 1% disease with 1% variants that have an odds ratio of 5.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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