Related Experiment Video
Updated: Jun 1, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Call for participation in the neurogenetics consortium within the Human Variome Project
Andrea Haworth1, Lars Bertram, Paola Carrera
1Neurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK.
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.
Related Concept Videos
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Genetic Variation
Genes exist in different versions called alleles, which...
Genomics
Single Nucleotide Polymorphisms-SNPs
Principles of Pharmacogenetics: Types of Genetic Variants

