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Quality standards for DNA sequence variation databases to improve clinical management under development in Australia
Despite 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 Genetic...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888016/ https://www.ncbi.nlm.nih.gov/pubmed/27294016 http://dx.doi.org/10.1016/j.atg.2014.07.002 |
| _version_ | 1782434810706264064 |
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| author | Bennetts, B. Caramins, M. Hsu, A. Lau, C. Mead, S. Meldrum, C. Smith, T.D. Suthers, G. Taylor, G.R. Cotton, R.G.H. Tyrrell, V. |
| author_facet | Bennetts, B. Caramins, M. Hsu, A. Lau, C. Mead, S. Meldrum, C. Smith, T.D. Suthers, G. Taylor, G.R. Cotton, R.G.H. Tyrrell, V. |
| author_sort | Bennetts, B. |
| collection | PubMed |
| description | Despite 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. |
| format | Online Article Text |
| id | pubmed-4888016 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-48880162016-06-10 Quality standards for DNA sequence variation databases to improve clinical management under development in Australia Bennetts, B. Caramins, M. Hsu, A. Lau, C. Mead, S. Meldrum, C. Smith, T.D. Suthers, G. Taylor, G.R. Cotton, R.G.H. Tyrrell, V. Appl Transl Genom Special Issue — Inaugural Issue Despite 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. Elsevier 2014-07-10 /pmc/articles/PMC4888016/ /pubmed/27294016 http://dx.doi.org/10.1016/j.atg.2014.07.002 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-sa/3.0/ This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/). |
| spellingShingle | Special Issue — Inaugural Issue Bennetts, B. Caramins, M. Hsu, A. Lau, C. Mead, S. Meldrum, C. Smith, T.D. Suthers, G. Taylor, G.R. Cotton, R.G.H. Tyrrell, V. Quality standards for DNA sequence variation databases to improve clinical management under development in Australia |
| title | Quality standards for DNA sequence variation databases to improve clinical management under development in Australia |
| title_full | Quality standards for DNA sequence variation databases to improve clinical management under development in Australia |
| title_fullStr | Quality standards for DNA sequence variation databases to improve clinical management under development in Australia |
| title_full_unstemmed | Quality standards for DNA sequence variation databases to improve clinical management under development in Australia |
| title_short | Quality standards for DNA sequence variation databases to improve clinical management under development in Australia |
| title_sort | quality standards for dna sequence variation databases to improve clinical management under development in australia |
| topic | Special Issue — Inaugural Issue |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888016/ https://www.ncbi.nlm.nih.gov/pubmed/27294016 http://dx.doi.org/10.1016/j.atg.2014.07.002 |
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