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

Research output: Contribution to journalArticle

4 Scopus citations

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 languageEnglish (US)
Pages (from-to)169-173
Number of pages5
JournalNeurogenetics
Volume12
Issue number3
DOIs
StatePublished - Aug 2011

Keywords

  • Database
  • Genetic variation
  • Human Variome Project
  • Neurogenetics consortium
  • Phenotype
  • Standardisation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

Fingerprint Dive into the research topics of 'Call for participation in the neurogenetics consortium within the Human Variome Project'. Together they form a unique fingerprint.

  • Cite this

    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