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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

(2007) HUMAN MUTATION. 28(10). p.931-932
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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 at., 2007]. We call for comment and collaboration in this article.
Keywords
mutation, variome, recommendations, genotype, phenotype

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Citation

Please use this url to cite or link to this publication:

Chicago
Cotton, RGH, AD Auerbach, AF Brown, P Carrera, J Christodoulou, M Claustre, J Compton, et al. 2007. “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.” Human Mutation.
APA
Cotton, R., Auerbach, A., Brown, A., Carrera, P., Christodoulou, J., Claustre, M., Compton, J., et al. (2007). 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. HUMAN MUTATION.
Vancouver
1.
Cotton R, Auerbach A, Brown A, Carrera P, Christodoulou J, Claustre M, et al. 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. HUMAN MUTATION. 2007. p. 931–2.
MLA
Cotton, RGH, AD Auerbach, AF Brown, et al. “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.” HUMAN MUTATION 2007 : 931–932. Print.
@misc{2054844,
  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 at., 2007]. We call for comment and collaboration in this article.},
  author       = {Cotton, RGH and Auerbach, AD and Brown, AF and Carrera, P and Christodoulou, J and Claustre, M and Compton, J and Cox, DW and De Baere, Elfride and den Dunnen, JT and Greenblatt, M and Fujiwara, M and Hilbert, P and Jani, A and Lehvaslaiho, H and Nebert, DW and Verma, I and Vihinen, M},
  issn         = {1059-7794},
  keyword      = {mutation,variome,recommendations,genotype,phenotype},
  language     = {eng},
  number       = {10},
  pages        = {931--932},
  series       = {HUMAN MUTATION},
  title        = {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},
  url          = {http://dx.doi.org/10.1002/humu.20631},
  volume       = {28},
  year         = {2007},
}

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