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需要一种用于订购基因检测的结构化简单表格,以确保临床细节(表型)与DNA变异(基因型)相结合,从而确保在出版物和数据库中的实用性。

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.

作者信息

Cotton R G H, Auerbach A D, Brown A F, Carrera P, Christodoulou J, Claustres M, Compton J, Cox D W, De Baere E, den Dunnen J T, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert D W, Verma I, Vihinen M

机构信息

Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia.

出版信息

Hum Mutat. 2007 Oct;28(10):931-2. doi: 10.1002/humu.20631.

Abstract

Researchers and clinicians ideally need instant access to all the variation in their gene/locus of interest to efficiently conduct their research and genetic healthcare to the highest standards. Currently much key data resides in the laboratory books or patient records around the world, as there are many impediments to submitting this data. It would be ideal therefore if a semiautomated pathway was available, with a minimum of effort, to make the deidentified data publicly available for others to use. The Human Variome Project (HVP) meeting listed 96 recommendations to work toward this situation. This article is planned to initiate a strategy to enhance the collection of phenotype and genotype data from the clinician/diagnostic laboratory nexus. Thus, the aim is to develop universally applicable forms that people can use when investigating patients for each inherited disease, to assist in satisfying many of the recommendations of the HVP Meeting [Cotton et al., 2007]. We call for comment and collaboration in this article.

摘要

研究人员和临床医生理想情况下需要即时获取他们感兴趣的基因/基因座的所有变异信息,以便高效地开展研究并将基因医疗提升至最高标准。目前,许多关键数据存于世界各地的实验室记录或患者病历中,因为提交这些数据存在诸多障碍。因此,如果能有一条半自动化途径,只需付出最少努力就能将去识别化的数据公开供他人使用,那将是理想的。人类变异组计划(HVP)会议列出了96条建议以实现这种情况。本文旨在启动一项策略,以加强从临床医生/诊断实验室关系中收集表型和基因型数据。因此,目标是开发通用适用的表格,供人们在调查每种遗传性疾病患者时使用,以协助满足HVP会议的许多建议[科顿等人,2007年]。我们在本文中呼吁各方发表意见并开展合作。

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