本文選題：稀有變異關(guān)聯(lián)分析 + 極端表型抽樣��； 參考：《畜牧獸醫(yī)學(xué)報(bào)》2017年07期

【摘要】：在過去十年里,全基因組關(guān)聯(lián)分析成功鑒定了數(shù)以千計(jì)的常見變異與常見疾病(性狀)的關(guān)聯(lián)。盡管如此,缺失遺傳力的問題逐漸引起了廣泛關(guān)注。由于GWAS的目標(biāo)是鑒定常見變異與表型的關(guān)聯(lián),稀有變異成為解釋缺失遺傳力的一個(gè)重要答案。隨著測(cè)序技術(shù)的發(fā)展,人們得以研究稀有變異與復(fù)雜疾病(性狀)的關(guān)聯(lián)。一系列的稀有變異關(guān)聯(lián)分析(RVAS)方法被提出并應(yīng)用于人類復(fù)雜疾病中,然而在畜禽上鮮有研究。本文首先綜述了RVAS中具有代表性的測(cè)序核關(guān)聯(lián)檢驗(yàn)(SKAT)及其家族;其后,總結(jié)了兩種在稀有變異中常用的提高效力的方法:極端表型抽樣和薈萃分析;然后,探討了使用芯片數(shù)據(jù)研究RVAS的方法:基因型填充和稀有單倍型關(guān)聯(lián)分析;最后展望了稀有變異關(guān)聯(lián)分析在畜禽上的應(yīng)用前景。
[Abstract]:Over the past decade, genome-wide association analysis has successfully identified thousands of common mutations associated with common diseases (traits). Nevertheless, the issue of lack of heritability has gradually attracted widespread attention. Since the objective of GWAS is to identify the association between common variations and phenotypes, rare variations are an important answer to explain the heritability of missing genes. With the development of sequencing technology, it has been possible to study the association between rare variation and complex diseases (traits). A series of rare variant association analysis (RVASs) methods have been proposed and applied to complex human diseases, but few studies have been carried out on livestock and poultry. In this paper, we first review the typical nucleotide sequencing association test (SKATT) and its family in RVAS, and then summarize two common methods to improve the efficiency of rare variation: extreme phenotypic sampling and meta-analysis. The methods of using chip data to study RVAS were discussed, including genotype filling and rare haplotype association analysis. Finally, the prospect of rare variant association analysis in livestock and poultry was prospected.
【作者單位】： 中國(guó)農(nóng)業(yè)科學(xué)院北京畜牧獸醫(yī)研究所;福建農(nóng)林大學(xué)動(dòng)物科學(xué)學(xué)院;
【基金】：國(guó)家自然科學(xué)基金(31472079)
【分類號(hào)】：S813

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相關(guān)期刊論文 前1條

1 苗健;常天鵬;史新平;夏江威;高會(huì)江;李俊雅;;稀有變異關(guān)聯(lián)分析研究進(jìn)展及其在畜禽中的應(yīng)用展望[J];畜牧獸醫(yī)學(xué)報(bào);2017年07期

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本文編號(hào)：1913193