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

Haworth, A; Bertram, L; Carrera, P; Elson, JL; Braastad, CD; Cox, DW; Cruts, M; ... Sobrido, MJ; + view all (2011) Call for participation in the neurogenetics consortium within the Human Variome Project. NEUROGENETICS , 12 (3) 169 - 173. 10.1007/s10048-011-0287-4.

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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.

Type: Article
Title: Call for participation in the neurogenetics consortium within the Human Variome Project
DOI: 10.1007/s10048-011-0287-4
Keywords: Human Variome project, Neurogenetics consortium, Database, Genetic variation, Standardisation, Phenotype, DISEASE, GENETICS, DATABASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1319012
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