统计精细绘图方法及其在自身免疫性疾病中的应用。

IF 7.9 2区 医学 Q1 IMMUNOLOGY
Seminars in Immunopathology Pub Date : 2022-01-01 Epub Date: 2022-01-18 DOI:10.1007/s00281-021-00902-8
Qingbo S Wang, Hailiang Huang
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引用次数: 0

摘要

尽管全基因组关联研究(GWAS)已在人类基因组中发现了数千个与不同性状相关的基因位点,但要了解 GWAS 中发现的关联信号背后的生物机制仍是一项挑战。统计精细图谱是一种旨在通过评估哪些变异与表型真正相关来完善 GWAS 信号的方法。在这里,我们回顾了迄今为止广泛使用的统计精细作图方法的类型,重点介绍了最近开发的利用功能注释的功能信息精细作图(FIFM)方法。然后,我们系统回顾了统计精细作图在自身免疫疾病研究中的应用,以突出统计精细作图在生物学背景下的价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Methods for statistical fine-mapping and their applications to auto-immune diseases.

Methods for statistical fine-mapping and their applications to auto-immune diseases.

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 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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来源期刊
Seminars in Immunopathology
Seminars in Immunopathology 医学-病理学
CiteScore
19.80
自引率
2.20%
发文量
69
审稿时长
12 months
期刊介绍: The aim of Seminars in Immunopathology is to bring clinicians and pathologists up-to-date on developments in the field of immunopathology.For this purpose topical issues will be organized usually with the help of a guest editor.Recent developments are summarized in review articles by authors who have personally contributed to the specific topic.
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