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

Andrea Haworth; Lars Bertram; Paola Carrera; Joanna L. Elson; Corey D. Braastad; Diane W. Cox; Marc Cruts; Johann T. Den Dunnen; Matthew J. Farrer; John K. Fink; Sherifa A. Hamed; Henry Houlden; Dennis R. Johnson; Karen Nuytemans; Francesc Palau; Dipa L Raja Rayan; Peter N. Robinson; Antonio Salas; Birgitt Schüle; Mary G. Sweeney; Michael O. Woods; Jorge Amigo; Richard G H Cotton; Maria Jesus Sobrido

doi:10.1007/s10048-011-0287-4

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

Andrea Haworth, Lars Bertram, Paola Carrera, Joanna L. Elson, Corey D. Braastad, Diane W. Cox, Marc Cruts, Johann T. Den Dunnen, Matthew J. Farrer, John K. Fink, Sherifa A. Hamed, Henry Houlden, Dennis R. Johnson, Karen Nuytemans, Francesc Palau, Dipa L Raja Rayan, Peter N. Robinson, Antonio Salas, Birgitt Schüle, Mary G. SweeneyMichael O. Woods, Jorge Amigo, Richard G H Cotton, Maria Jesus Sobrido

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	169-173
Number of pages	5
Journal	Neurogenetics
Volume	12
Issue number	3
DOIs	https://doi.org/10.1007/s10048-011-0287-4
Publication status	Published - Aug 2011

Keywords

Database
Genetic variation
Human Variome Project
Neurogenetics consortium
Phenotype
Standardisation

ASJC Scopus subject areas

Genetics(clinical)
Cellular and Molecular Neuroscience
Genetics

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10.1007/s10048-011-0287-4

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Haworth, A., Bertram, L., Carrera, P., Elson, J. L., Braastad, C. D., Cox, D. W., Cruts, M., Den Dunnen, J. T., Farrer, M. J., Fink, J. K., Hamed, S. A., Houlden, H., Johnson, D. R., Nuytemans, K., Palau, F., Rayan, D. L. R., Robinson, P. N., Salas, A., Schüle, B., ... Sobrido, M. J. (2011). Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics, 12(3), 169-173. https://doi.org/10.1007/s10048-011-0287-4

Haworth, A, Bertram, L, Carrera, P, Elson, JL, Braastad, CD, Cox, DW, Cruts, M, Den Dunnen, JT, Farrer, MJ, Fink, JK, Hamed, SA, Houlden, H, Johnson, DR, Nuytemans, K, Palau, F, Rayan, DLR, Robinson, PN, Salas, A, Schüle, B, Sweeney, MG, Woods, MO, Amigo, J, Cotton, RGH & Sobrido, MJ 2011, 'Call for participation in the neurogenetics consortium within the Human Variome Project', Neurogenetics, vol. 12, no. 3, pp. 169-173. https://doi.org/10.1007/s10048-011-0287-4

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AU - Salas, Antonio

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AU - Sweeney, Mary G.

AU - Woods, Michael O.

AU - Amigo, Jorge

AU - Cotton, Richard G H

AU - Sobrido, Maria Jesus

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

Abstract

Keywords

ASJC Scopus subject areas

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