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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...

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Detalles Bibliográficos
Autores principales: Wang, Qingbo S., Huang, Hailiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
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.
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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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