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Your search keyword '"Lehvaslaiho H"' showing total 2 results
Start Over Author "Lehvaslaiho H" Publisher wiley-blackwell
2 results on '"Lehvaslaiho H"'

1. Recommendations for locus-specific databases and their curation.

Author

Cotton, R.G.H., Auerbach, A.D., Beckmann, J.S., Blumenfeld, O.O., Brookes, A.J., Brown, A.F., Carrera, P., Cox, D.W., Gottlieb, B., Greenblatt, M.S., Hilbert, P., Lehvaslaiho, H., Liang, P., Marsh, S., Nebert, D.W., Povey, S., Rossetti, S., Scriver, C.R., Summar, M., and Tolan, D.R.

Abstract

Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome. Hum Mutat 29(1), 2-5, 2008. © 2007 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2008
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2. 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.

Author

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., and Vihinen, M.

Abstract

Copyright of Human Mutation is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2007
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