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Planning the human variome project: the Spain report

Kaput, Jim, Cotton, Richard G. H., Hardman, Lauren, Watson, Michael, Al Aqeel, Aida I., Al-Aama, Jumana Y., Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Blöcker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calzone, Rita, Cambon-Thomsen, Anne, Cargill, Michele, Carrera, Paola, Cavedon, Lawrence, Cho, Yoon Shin, Chung, Yeun-Jun, Claustres, Mireille, Cutting, Garry, Dalgleish, Raymond, den Dunnen, Johan T., Díaz, Carlos, Dobrowolski, Steven, dos Santos, M. Rosário N., Ekong, Rosemary, Flanagan, Simon B., Flicek, Paul, Furukawa, Yoichi, Genuardi, Maurizio, Ghang, Ho, Golubenko, Maria V., Greenblatt, Marc S., Hamosh, Ada, Hancock, John M., Hardison, Ross, Harrison, Terence M., Hoffmann, Robert, Horaitis, Rania, Howard, Heather J., Barash, Carol Isaacson, Izagirre, Neskuts, Jung, Jongsun, Kojima, Toshio, Laradi, Sandrine, Lee, Yeon-Su, Lee, Jong-Young, Gil-da-Silva-Lopes, Vera L., Macrae, Finlay A., Maglott, Donna, Marafie, Makia J., Marsh, Steven G. E., Matsubara, Yoichi, Messiaen, Ludwine M., Möslein, Gabriela, Netea, Mihai G., Norton, Melissa L., Oefner, Peter J., Oetting, William S., O'Leary, James C., de Ramirez, Ana Maria Oller, Paalman, Mark H., Parboosingh, Jillian, Patrinos, George P., Perozzi, Giuditta, Phillips, Ian R., Povey, Sue, Prasad, Suyash, Qi, Ming, Quin, David J., Ramesar, Rajkumar S., Richards, C Sue, Savige, Judith, Scheible, Dagmar G., Scott, Rodney J., Seminara, Daniela, Shephard, Elizabeth A., Sijmons, Rolf H., Smith, Timothy D., Sobrido, María-Jesús, Tanaka, Toshihiro, Tavtigian, Sean V., Taylor, Graham R., Teague, Jon, Töpel, Thoralf, Ullman-Cullere, Mollie, Utsunomiya, Joji, van Kranen, Henk J., Vihinen, Mauno, Webb, Elizabeth, Weber, Thomas K., Yeager, Meredith, Yeom, Young I., Yim, Seon-Hee and Yoo, Hyang-Sook (2009) Planning the human variome project: the Spain report. Human mutation 30 (4), pp. 496-510.

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Abstract

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for ...

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Item type:Article
Date:April 2009
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number:
ValueType
19306394PubMed ID
10.1002/humu.20972DOI
Classification:
NotationType
Computational Biology/standardsMESH
Databases, GeneticMESH
Genetic Predisposition to DiseaseMESH
Genetic VariationMESH
Genome, Human/geneticsMESH
GenotypeMESH
HumansMESH
Information DisseminationMESH
MutationMESH
PhenotypeMESH
Polymorphism, GeneticMESH
SpainMESH
Dewey Decimal Classification:500 Science > 570 Life sciences
600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:30650
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