title: Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
abstract: The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to collections of mutations causing specific diseases has become essential for appropriate genetic health care. Because information has accumulated, it has become apparent that there are many gaps in our ability to correctly annotate all the changes that are being identified at ever increasing rates. The Human Variome Project (www.humanvariomeproject.org) was initiated to facilitate integrated and systematic collection and access to this data. This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities.
authors.affiliation: Genomic Disorders Research Centre, Melbourne, Australia. cotton@unimelb.edu.au <cotton@unimelb.edu.au>
authors.forename: Richard G H
authors.initials: RG
authors.lastname: Cotton
authors.forename: Aida I
authors.initials: AI
authors.lastname: Al Aqeel
authors.forename: Fahd
authors.initials: F
authors.lastname: Al-Mulla
authors.forename: Paola
authors.initials: P
authors.lastname: Carrera
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Rosemary
authors.initials: R
authors.lastname: Ekong
authors.forename: Valentine J
authors.initials: VJ
authors.lastname: Hyland
authors.forename: Finlay A
authors.initials: FA
authors.lastname: Macrae
authors.forename: Makia J
authors.initials: MJ
authors.lastname: Marafie
authors.forename: Mark H
authors.initials: MH
authors.lastname: Paalman
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Ming
authors.initials: M
authors.lastname: Qi
authors.forename: Rajkumar S
authors.initials: RS
authors.lastname: Ramesar
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Rolf H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: María-Jesús
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: Mauno
authors.initials: M
authors.lastname: Vihinen
mesh_terms: D035843:Biomedical Research / Q000379:methods*; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D005826:Genetics, Medical / Q000379:methods / Q000458:organization & administration / Q000706:statistics & numerical data; D006801:Humans; D007391:International Cooperation; D009154:Mutation