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Supplemental Information

WHO ICD10 International Classification of Diseases

DOI: 10.7287/peerj.preprints.42v1/supp-1

Expanded review of selected common diseases for nonsyndromic Mendelian susceptibility genes

DOI: 10.7287/peerj.preprints.42v1/supp-2

A hypothetical model for mutational robustness in early versus late onset complex diseases

The genetic architecture of late onset common diseases (upper panel) has fewer protective variants (depicted by columns and springs) when compared to early onset common diseases (lower panel). (A random individual is illustrated in the first diagram of each panel.) An abundance of protective variants in early onset common diseases enables buffering of the deleterious coding mutations. In this model, the development of disease (depicted by the tilting of the gene-environment interface platform) is assumed to be primarily driven by environmental factors (depicted by triangles) that accumulate gradually over a lifetime for late onset common diseases, but more rapidly for early onset ones. The types of protective variants (i.e., coding, regulatory) are described in the upper panel. The width of a protective variant is proportional to the relative risk conferred by its loss. Rare variants that alter conserved ancestral genes are assumed to confer the highest relative risk. Protective alleles in early onset common diseases that are enriched by natural selection are assumed to be primarily non-ancestral regulatory variants (depicted by springs). Mutational robustness is constrained in syndromic common disease predisposition genes (depicted by long columns) compared to the non-syndromic genes.

DOI: 10.7287/peerj.preprints.42v1/supp-3

Additional Information

Competing Interests

There are no competing interests.

Author Contributions

Bora E Baysal conceived and designed the experiments, performed the experiments, analyzed the data, wrote the paper.


No funding agency supported or was involved in design, collection, analysis, and interpretation of data. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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