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Methods for statistical fine-mapping and their applications to auto-immune diseases
Although genome-wide association studies (GWAS) have identified thousands of loci in the human genome that are associated with different traits, understanding the biological mechanisms underlying the association signals identified in GWAS remains challenging. Statistical fine-mapping is a method aim...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837575/ https://www.ncbi.nlm.nih.gov/pubmed/35041074 http://dx.doi.org/10.1007/s00281-021-00902-8 |
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author | Wang, Qingbo S. Huang, Hailiang |
author_facet | Wang, Qingbo S. Huang, Hailiang |
author_sort | Wang, Qingbo S. |
collection | PubMed |
description | Although genome-wide association studies (GWAS) have identified thousands of loci in the human genome that are associated with different traits, understanding the biological mechanisms underlying the association signals identified in GWAS remains challenging. Statistical fine-mapping is a method aiming to refine GWAS signals by evaluating which variant(s) are truly causal to the phenotype. Here, we review the types of statistical fine-mapping methods that have been widely used to date, with a focus on recently developed functionally informed fine-mapping (FIFM) methods that utilize functional annotations. We then systematically review the applications of statistical fine-mapping in autoimmune disease studies to highlight the value of statistical fine-mapping in biological contexts. |
format | Online Article Text |
id | pubmed-8837575 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-88375752022-02-23 Methods for statistical fine-mapping and their applications to auto-immune diseases Wang, Qingbo S. Huang, Hailiang Semin Immunopathol Review Although genome-wide association studies (GWAS) have identified thousands of loci in the human genome that are associated with different traits, understanding the biological mechanisms underlying the association signals identified in GWAS remains challenging. Statistical fine-mapping is a method aiming to refine GWAS signals by evaluating which variant(s) are truly causal to the phenotype. Here, we review the types of statistical fine-mapping methods that have been widely used to date, with a focus on recently developed functionally informed fine-mapping (FIFM) methods that utilize functional annotations. We then systematically review the applications of statistical fine-mapping in autoimmune disease studies to highlight the value of statistical fine-mapping in biological contexts. Springer Berlin Heidelberg 2022-01-18 2022 /pmc/articles/PMC8837575/ /pubmed/35041074 http://dx.doi.org/10.1007/s00281-021-00902-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Review Wang, Qingbo S. Huang, Hailiang Methods for statistical fine-mapping and their applications to auto-immune diseases |
title | Methods for statistical fine-mapping and their applications to auto-immune diseases |
title_full | Methods for statistical fine-mapping and their applications to auto-immune diseases |
title_fullStr | Methods for statistical fine-mapping and their applications to auto-immune diseases |
title_full_unstemmed | Methods for statistical fine-mapping and their applications to auto-immune diseases |
title_short | Methods for statistical fine-mapping and their applications to auto-immune diseases |
title_sort | methods for statistical fine-mapping and their applications to auto-immune diseases |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837575/ https://www.ncbi.nlm.nih.gov/pubmed/35041074 http://dx.doi.org/10.1007/s00281-021-00902-8 |
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