Genet Med. 2009 Dec;11(12):843-9.

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M; members of the Human Variome Project Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups.

Source

Genomic Disorders Research Centre, Melbourne, Australia. cotton@unimelb.edu.au <cotton@unimelb.edu.au>

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.

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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

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