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. 2020 Sep 18;66(1):11–23. doi: 10.1038/s10038-020-00845-2

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Unique roles of rare variants in the genetic of complex diseases. Rare variants have unique roles which are different from common variants characterized by lower impact on gene function, and higher linkage disequilibrium with flanking variants. In this manuscript, four unique roles are discussed, and they contribute to different parts in the genetics of complex diseases in humans, which ultimately leads to the improvement of human health