基因分型错误：原因、后果及解决方法。

Genotyping errors: causes, consequences and solutions.

作者信息

Pompanon François, Bonin Aurélie, Bellemain Eva, Taberlet Pierre

机构信息

Laboratoire d'Ecologie Alpine, UMR CNRS 5553, Université Joseph Fourier, B.P. 53, 38041 Grenoble Cedex 9, France.

出版信息

Nat Rev Genet. 2005 Nov;6(11):847-59. doi: 10.1038/nrg1707.

DOI:10.1038/nrg1707

PMID:16304600

Abstract

Although genotyping errors affect most data and can markedly influence the biological conclusions of a study, they are too often neglected. Errors have various causes, but their occurrence and effect can be limited by considering these causes in the production and analysis of the data. Procedures that have been developed for dealing with errors in linkage studies, forensic analyses and non-invasive genotyping should be applied more broadly to any genetic study. We propose a protocol for estimating error rates and recommend that these measures be systemically reported to attest the reliability of published genotyping studies.

摘要

尽管基因分型错误会影响大多数数据，并可能显著影响研究的生物学结论，但它们却常常被忽视。错误有多种原因，不过在数据的产生和分析过程中考虑这些原因，其发生及影响是可以得到控制的。在连锁研究、法医分析和非侵入性基因分型中已开发出的处理错误的程序，应更广泛地应用于任何基因研究中。我们提出了一个估计错误率的方案，并建议系统地报告这些指标，以证明已发表的基因分型研究的可靠性。