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  Call for participation in the neurogenetics consortium within the Human Variome Project

Haworth, A., Bertram, L., Carrera, P., Elson, J. L., Braastad, C. D., Cox, D. W., et al. (2011). Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics, 12(3), 169-73. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21630033 http://www.springerlink.com/content/660mkg1115r86328/fulltext.pdf.

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Haworth, A., Autor
Bertram, L.1, Autor           
Carrera, P., Autor
Elson, J. L., Autor
Braastad, C. D., Autor
Cox, D. W., Autor
Cruts, M., Autor
den Dunnen, J. T., Autor
Farrer, M. J., Autor
Fink, J. K., Autor
Hamed, S. A., Autor
Houlden, H., Autor
Johnson, D. R., Autor
Nuytemans, K., Autor
Palau, F., Autor
Rayan, D. L., Autor
Robinson, P. N.2, Autor           
Salas, A., Autor
Schule, B., Autor
Sweeney, M. G., Autor
Woods, M. O., AutorAmigo, J., AutorCotton, R. G., AutorSobrido, M. J., Autor mehr..
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Schlagwörter: Algorithms; Congresses as Topic; Databases, Genetic/*standards; *Genetic Variation/physiology; Genetics, Medical/*organization & administration/standards; Human Genome Project/organization & administration; Humans; *International Cooperation; Nervous System/*metabolism; Nervous System Diseases/genetics/metabolism; Research Report
 Zusammenfassung: The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the "Neurogenetics Consortium" under the umbrella of the Human Variome Project. The Consortium's founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource.

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 Datum: 2011
 Publikationsstatus: Erschienen
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Titel: Neurogenetics
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 12 (3) Artikelnummer: - Start- / Endseite: 169 - 73 Identifikator: ISSN: 1364-6753 (Electronic) 1364-6745 (Linking)