Reducing the burden of inherited disease: The Human Variome Project

Medical Journal of Australia

Volumn 192, Issue 11, 2010, Pages 628-629

  Cotton, Richard G H ^a   Macrae, Finlay A ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AUSTRALIA; EDITORIAL; GENE MUTATION; GENETIC DATABASE; GENETIC DISORDER; HEALTH CARE COST; PILOT STUDY; UNITED STATES;

EID: 77953517926     PISSN: 0025729X     EISSN: 13265377     Source Type: Journal    
DOI: 10.5694/j.1326-5377.2010.tb03658.x     Document Type: Editorial

References (9)

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2. Hamosh A, Scott AF, Amberger J, et al. Online Mendelian Inheritance in Man (OMIM). Hum Mutat 2000; 15: 57-61.
3. Cooper DN, Ball EV, Krawczak M. The human gene mutation database. Nucleic Acids Res 1998; 26: 285-287.
4. Sherry ST, Ward M, Sirotkin K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res 1999; 9: 677-679.
5. Claustres M, Horaitis O, Vanevski M, Cotton RG. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res 2002; 12: 680-688.
6. What is the Human Variome Project [editorial]? Nat Genet 2007; 39: 423.
7. Cotton RG, and participants of the 2006 Human Variome Project meeting. Recommendations of the 2006 Human Variome Project meeting. Nat Genet 2007; 39: 433-436.
8. Cotton RG, Auerbach AD, Axton M, et al. The Human Variome Project. Science 2008; 322: 861-862.
9. Cotton RG, Al Aqeel AI, Al-Mulla F, et al. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med 2009; 11: 843-849.