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Unique roles of rare variants in the genetics of complex diseases in humans
Genome-wide association studies have identified >10,000 genetic variants associated with various phenotypes and diseases. Although the majority are common variants, rare variants with >0.1% of minor allele frequency have been investigated by imputation and using disease-specific custom SNP arr...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728599/ https://www.ncbi.nlm.nih.gov/pubmed/32948841 http://dx.doi.org/10.1038/s10038-020-00845-2 |
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author | Momozawa, Yukihide Mizukami, Keijiro |
author_facet | Momozawa, Yukihide Mizukami, Keijiro |
author_sort | Momozawa, Yukihide |
collection | PubMed |
description | Genome-wide association studies have identified >10,000 genetic variants associated with various phenotypes and diseases. Although the majority are common variants, rare variants with >0.1% of minor allele frequency have been investigated by imputation and using disease-specific custom SNP arrays. Rare variants sequencing analysis mainly revealed have played unique roles in the genetics of complex diseases in humans due to their distinctive features, in contrast to common variants. Unique roles are hypothesis-free evidence for gene causality, a precise target of functional analysis for understanding disease mechanisms, a new favorable target for drug development, and a genetic marker with high disease risk for personalized medicine. As whole-genome sequencing continues to identify more rare variants, the roles associated with rare variants will also increase. However, a better estimation of the functional impact of rare variants across whole genome is needed to enhance their contribution to improvements in human health. |
format | Online Article Text |
id | pubmed-7728599 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Singapore |
record_format | MEDLINE/PubMed |
spelling | pubmed-77285992020-12-17 Unique roles of rare variants in the genetics of complex diseases in humans Momozawa, Yukihide Mizukami, Keijiro J Hum Genet Review Article Genome-wide association studies have identified >10,000 genetic variants associated with various phenotypes and diseases. Although the majority are common variants, rare variants with >0.1% of minor allele frequency have been investigated by imputation and using disease-specific custom SNP arrays. Rare variants sequencing analysis mainly revealed have played unique roles in the genetics of complex diseases in humans due to their distinctive features, in contrast to common variants. Unique roles are hypothesis-free evidence for gene causality, a precise target of functional analysis for understanding disease mechanisms, a new favorable target for drug development, and a genetic marker with high disease risk for personalized medicine. As whole-genome sequencing continues to identify more rare variants, the roles associated with rare variants will also increase. However, a better estimation of the functional impact of rare variants across whole genome is needed to enhance their contribution to improvements in human health. Springer Singapore 2020-09-18 2021 /pmc/articles/PMC7728599/ /pubmed/32948841 http://dx.doi.org/10.1038/s10038-020-00845-2 Text en © 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/. |
spellingShingle | Review Article Momozawa, Yukihide Mizukami, Keijiro Unique roles of rare variants in the genetics of complex diseases in humans |
title | Unique roles of rare variants in the genetics of complex diseases in humans |
title_full | Unique roles of rare variants in the genetics of complex diseases in humans |
title_fullStr | Unique roles of rare variants in the genetics of complex diseases in humans |
title_full_unstemmed | Unique roles of rare variants in the genetics of complex diseases in humans |
title_short | Unique roles of rare variants in the genetics of complex diseases in humans |
title_sort | unique roles of rare variants in the genetics of complex diseases in humans |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728599/ https://www.ncbi.nlm.nih.gov/pubmed/32948841 http://dx.doi.org/10.1038/s10038-020-00845-2 |
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