| 廖鑫,邓静,荀佳雨,严俊霞.低频变异关联研究与统计检验[J].中华流行病学杂志,2017,38(7):977-982 |
| 低频变异关联研究与统计检验 |
| Less common variants association study and statistical analysis |
| 收稿日期:2016-12-28 出版日期:2017-07-15 |
| DOI：10.3760/cma.j.issn.0254-6450.2017.07.026 |
| 中文关键词: 低频变异 关联研究 统计检验 |
| 英文关键词: Less common variants Association study Statistical test |
| 基金项目:国家自然科学基金（81502881）；中国博士后科学基金（2015M582351） |
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| 中文摘要: |
| 在过去的10年间，基于"常见疾病-常见变异"的假设，全基因组关联研究被广泛应用于疾病和复杂性状的遗传学病因研究中。但是，全基因组关联分析发现的疾病相关常见变异，只能解释疾病小部分的遗传风险，造成"遗传度丢失"。"常见疾病-低频变异"的假设被提出。随着新一代测序技术的发展，低频变异关联研究陆续开展。本文主要对低频变异关联研究的研究设计以及关联分析方法进行综述。 |
| 英文摘要: |
| In the past decade, based on the "common disease-common variant" hypothesis, genomewide association studies (GWAS) have been extensively used to dissect the genetic components of complex diseases and quantitative traits. However, the identified disease-associated common variants by GWASs can only explain small part of the corresponding disease heritability. "Common disease-rare variant" hypothesis has been proposed to explore the missed heritability. With the development of the next generation sequencing technology, various association studies of less common variants are ongoing. This paper provides an overview of the study designs and statistical tests of these variants. |
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