45 research outputs found
Quality standards for DNA sequence variation databases to improve clinical management under development in Australia
Get PDFDespite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases meet quality requirements for clinical diagnostics. To address this issue, The Royal College of Pathologists of Australasia (RCPA) in collaboration with the Human Genetics Society of Australasia (HGSA), and the Human Variome Project (HVP) is developing standards for DNA sequence variation databases intended for use in the Australian clinical environment. The outputs of this project will be promoted to other health systems and accreditation bodies by the Human Variome Project to support the development of similar frameworks in other jurisdictions.B. Bennetts, M. Caramins, A. Hsu, C. Lau, S. Mead, C.Meldrum, T.D. Smith, G. Suthers, G.R. Taylor, R.G.H. Cotton, V. Tyrrel
Spontaneous mutation in tissue culture — chemical nature of variant immunoglobulin from mutant clones of MOPC 21
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Guidelines for Establishing Locus Specific Databases
No full textGenomics, epigenetics, population genetics and bioinformatic
Genetic Tests Need the Human Variome Project
No full textGenomics, epigenetics, population genetics and bioinformatic
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease
No full textMolecular Technology and Informatics for Personalised Medicine and Healt
Absolute Dependence of Phenylalanine and Tyrosine Biosynthetic Enzyme on Tryptophan in Candida maltosa
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