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(误)治疗药物基因组学偶然发现。

(Mis)treating the pharmacogenetic incidentalome.

机构信息

Harvard Medical School Center for Biomedical Informatics, 10 Shattuck Street, Boston, Massachusetts 02115, USA.

出版信息

Nat Rev Drug Discov. 2012 Feb 1;11(2):89-90. doi: 10.1038/nrd3659.

DOI:10.1038/nrd3659
PMID:22293554
Abstract

Genome-wide screening is anticipated to accelerate the development of personalized medicine by identifying and exploiting new associations between genomic variants and drug responses. However, this goal could be undermined if care is not taken to minimize the impact of pharmacogenomic associations that turn out to have narrower implications than suggested by initial studies.

摘要

全基因组筛查有望通过识别和利用基因组变异与药物反应之间的新关联来加速个体化医学的发展。然而,如果不注意最小化药物基因组关联的影响,而这些关联的影响比初步研究表明的要窄,那么这一目标可能会受到损害。

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Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions.BRCA1 和 BRCA2 意义未明变异携带者的随访:变异再分类和手术决策。
Genet Med. 2011 Dec;13(12):998-1005. doi: 10.1097/GIM.0b013e318226fc15.
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Using electronic health records to drive discovery in disease genomics.利用电子健康记录推动疾病基因组学的发现。
Nat Rev Genet. 2011 Jun;12(6):417-28. doi: 10.1038/nrg2999. Epub 2011 May 18.
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
偶然变异对于基因组学至关重要。
Am J Hum Genet. 2013 May 2;92(5):648-51. doi: 10.1016/j.ajhg.2013.04.001.
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Pharmacogenomics in children: advantages and challenges of next generation sequencing applications.儿童药物基因组学:下一代测序应用的优势与挑战
Int J Pediatr. 2013;2013:136524. doi: 10.1155/2013/136524. Epub 2013 Jan 17.
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Pharmacogenetics in the evaluation of new drugs: a multiregional regulatory perspective.药物遗传学在新药评估中的应用:多区域监管视角。
Nat Rev Drug Discov. 2013 Feb;12(2):103-15. doi: 10.1038/nrd3931.
6
Pharmacosynthetics: Reimagining the pharmacogenetic approach.药物合成学:重新构想药物遗传学方法。
Brain Res. 2013 May 20;1511:6-20. doi: 10.1016/j.brainres.2012.09.043. Epub 2012 Oct 9.
R117H 突变致囊性纤维化极低外显率:对遗传咨询和新生儿筛查的再评估。
J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29.
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CNVs of human genes and their implication in pharmacogenetics.人类基因的拷贝数变异及其在药物遗传学中的意义。
Cytogenet Genome Res. 2008;123(1-4):195-204. doi: 10.1159/000184709. Epub 2009 Mar 11.
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Medicine. Reestablishing the researcher-patient compact.医学。重建研究者与患者的契约。
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