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811 results on '"Cassiman, J. J."'

20. Commentary

Author

MEHTA, A. and CASSIMAN, J.-J.

Published
2005

21. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

Author

Osborne, L., Santis, G., Schwarz, M., Klinger, K., Dörk, T., McIntosh, I., Schwartz, M., Nunes, V., Macek, Jr., M., Reiss, J., Highsmith, Jr., W. E., McMahon, R., Novelli, G., Malik, N., Bürger, J., Anvret, M., Wallace, A., Williams, C., Mathew, C., Rozen, R., Graham, C., Gasparini, P., Bal, J., Cassiman, J. J., Balassopoulou, A., Davidow, L., Raskin, S., Kalaydjieva, L., Kerem, B., Richards, S., Simon-Bouy, B., Super, M., Wulbrand, U., Keston, M., Estivill, X., Vavrova, V., Friedman, K. J., Barton, D., Dallapiccola, B., Stuhrmann, M., Beards, F., Hill, A. J. M., Pignatti, P. F., Cuppens, H., Angelicheva, D., Tümmler, B., Brock, D. J. H., Casals, T., Macek, M., Schmidtke, J., Magee, A. C., Bonizzato, A., De Boeck, C., Kuffardjieva, A., Hodson, M., and Knight, R. A.

Published
1992
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37. Recommendations of the 2006 Human Variome Project meeting

Author

Cotton, RGH, Appelbe, W, Auerbach, AD, Becker, K, Bodmer, W, Boone, DJ, Boulyjenkov, V, Brahmachari, S, Brody, L, Brookes, A, Brown, AF, Byers, P, Maria Cantu, J, Cassiman, J-J, Claustres, M, Concannon, P, Den Dunnen, JT, Flicek, P, Gibbs, R, Hall, J, Hasler, J, Katz, M, Kwok, P-Y, Laradi, S, Lindblom, A, Maglott, D, Marsh, S, Masimirembwa, CM, Minoshima, S, De Ramirez, AMO, Pagon, R, Ramesar, R, Ravine, D, Richards, S, Rimoin, D, Ring, HZ, Scriver, CR, Sherry, S, Shimizu, N, Stein, L, Tadmouri, GO, Taylor, G, and Watson, M

Subjects
Standardization, Informatics, Sustainability, Genetics, MEDLINE, Human Variome Project, Relevance (information retrieval), Diagnostic laboratory, Biology, Data science, Human genetics
Abstract

Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization-cosponsored meeting on June 20-23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations. © 2007 Nature Publishing Group.

Published
2016

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