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下一代测序技术对复杂性状研究的影响。

The effect of next-generation sequencing technology on complex trait research.

机构信息

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

出版信息

Eur J Clin Invest. 2011 May;41(5):561-7. doi: 10.1111/j.1365-2362.2010.02437.x. Epub 2010 Dec 14.

Abstract

BACKGROUND

Advances in the understanding of complex trait genetics have always been enabled by advances in genomic technology. Next-generation sequencing (NGS) is set to revolutionize the way complex trait genetics research is carried out.

RESULTS

NGS has multiple applications in the field of human genetics, but is accompanied by substantial study design, analysis and interpretation challenges. This review discusses key aspects of study design considerations, data handling issues and required analytical developments. We also highlight early successes in mapping genetic traits using NGS.

CONCLUSION

NGS opens the entire spectrum of genomic alterations for the genetic analysis of complex traits and there are early publications illustrating its power. Continuing development in analytical tools will allow the promise of NGS to be realized.

摘要

背景

对复杂性状遗传学的理解的进步始终得益于基因组技术的进步。下一代测序(NGS)将彻底改变复杂性状遗传学研究的开展方式。

结果

NGS 在人类遗传学领域有多种应用,但伴随着大量的研究设计、分析和解释方面的挑战。本综述讨论了研究设计考虑因素、数据处理问题和所需分析开发的关键方面。我们还强调了使用 NGS 进行遗传特征映射的早期成功。

结论

NGS 为复杂性状的遗传分析开放了整个基因组改变谱,并且已经有早期出版物说明了它的强大功能。分析工具的持续发展将使 NGS 的前景成为现实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/3107422/767945edb14c/eci0041-0561-f1.jpg

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