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N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.
2
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.基于自组装 DNA 纳米阵列的无链碱基读取进行人类基因组测序。
Science. 2010 Jan 1;327(5961):78-81. doi: 10.1126/science.1181498. Epub 2009 Nov 5.
3
Origins and functional impact of copy number variation in the human genome.人类基因组中拷贝数变异的起源和功能影响。
Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.
4
Closing the gap: inverting the genetics curriculum to ensure an informed public.缩小差距:反转遗传学课程以确保公众了解相关知识。
Am J Hum Genet. 2009 Jul;85(1):6-12. doi: 10.1016/j.ajhg.2009.05.010. Epub 2009 Jun 25.
5
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.全基因组关联位点对人类疾病和性状的潜在病因学及功能影响。
Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9362-7. doi: 10.1073/pnas.0903103106. Epub 2009 May 27.
6
Race and ancestry in biomedical research: exploring the challenges.生物医学研究中的种族和民族:探索挑战。
Genome Med. 2009 Jan 21;1(1):8. doi: 10.1186/gm8.
7
Pharmacogenomics and the challenge of health disparities.药物基因组学与健康差异挑战
Public Health Genomics. 2009;12(3):170-9. doi: 10.1159/000189630. Epub 2009 Feb 10.
8
An open access database of genome-wide association results.一个全基因组关联结果的开放获取数据库。
BMC Med Genet. 2009 Jan 22;10:6. doi: 10.1186/1471-2350-10-6.
9
Race does not explain genetic heterogeneity in pharmacogenomic pathways.种族并不能解释药物基因组学途径中的基因异质性。
Pharmacogenomics. 2008 Nov;9(11):1639-45. doi: 10.2217/14622416.9.11.1639.
10
Personal genomics. The touchy subject of 'race'.个人基因组学。敏感的“种族”话题。
Science. 2008 Nov 7;322(5903):839. doi: 10.1126/science.322.5903.839a.

基因组时代的人类差异:促进负责任的社会对话。

Human difference in the genomic era: Facilitating a socially responsible dialogue.

机构信息

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

BMC Med Genomics. 2010 May 26;3:20. doi: 10.1186/1755-8794-3-20.

DOI:10.1186/1755-8794-3-20
PMID:20504336
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2888748/
Abstract

BACKGROUND

The study of human genetic variation has been advanced by research such as genome-wide association studies, which aim to identify variants associated with common, complex diseases and traits. Significant strides have already been made in gleaning information on susceptibility, treatment, and prevention of a number of disorders. However, as genetic researchers continue to uncover underlying differences between individuals, there is growing concern that observed population-level differences will be inappropriately generalized as inherent to particular racial or ethnic groups and potentially perpetuate negative stereotypes.

DISCUSSION

We caution that imprecision of language when conveying research conclusions, compounded by the potential distortion of findings by the media, can lead to the stigmatization of racial and ethnic groups.

SUMMARY

It is essential that the scientific community and with those reporting and disseminating research findings continue to foster a socially responsible dialogue about genetic variation and human difference.

摘要

背景

人类遗传变异的研究已经取得了很大进展,例如全基因组关联研究,旨在识别与常见复杂疾病和特征相关的变异。已经在获取关于许多疾病的易感性、治疗和预防的信息方面取得了重大进展。然而,随着遗传研究人员继续揭示个体之间的潜在差异,人们越来越担心观察到的人群水平差异会被不恰当地归结为特定种族或族群的固有特征,并可能延续负面刻板印象。

讨论

我们警告说,在传达研究结论时语言的不精确性,加上媒体对研究结果的潜在扭曲,可能导致对种族和族群的污名化。

总结

科学界以及报告和传播研究结果的人员必须继续就遗传变异和人类差异进行负责任的社会对话。