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1860797476957585408
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INTELEK Repository
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Online Access
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https://intelek.unisza.edu.my/intelek/pages/search.php?search=!collection407072
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2016-03-15 13:23:45
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Restricted Document
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12884
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UniSZA
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1. Al Aama J, Smith TD, Lo A, Howard H, Kline AA, Lange M, Cotton RG. Initiating a human variome project country node. Human Mutation. 2011;32(5):501–6. 2. Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Genuardi M. Application of a 5-tiered scheme for standardized clas sification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genet. 2014;46(2):107–15. 3. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, denDunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32(5):557–63. doi:10.1002/humu.21438. 4. Al-Gazali L, Ali BR. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat. 2010;31(5):505–20. doi:10.1002/humu.21232. 5. Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. UMD (Universal mutation database): a generic software to build and analyze locus-spe cific databases. Hum Mutat. 2000;15(1):86–94. 6. Faroe Genome Project. http://www.fargen.fo/en/home/. Accessed 2 Nov 2015. 7. Sherry ST, Ward M-H, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucl Acids Res. 2001;29(1):308–11. doi:10.1093/nar/29.1.308. 8. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133(1):1–9. 9. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variants descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Human Mutation 29(1): 6–13. 10. Department of Statistics. Malaysia Year Book of Statistics. 2007. 11. Al Aqeel AI. Islamic ethical framework for research into and prevention of genetic disease. Nat Genet. 2007;39:1293–8. 12. Cotton RG, Sallee C, Knoppes BM. Locus–specific databases: from ethical principles to practice. Human Genet. 2006;26:489–93. 13. Madieha Ida. Personal data protection law: the Malaysian experience. Inform Commun Technol Law. 2007;6(2):126–35. 14. Halim-Fikri H, Etemad A, Abdul Latif AZ, Merican AF, Baig AA, Annuar AA et al. The first Malay database toward the ethnic-specific target molecular variation. 2015. 8:176. doi: 10.1186/s13104-015-1123-y
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norman
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oai_dc
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12884 https://intelek.unisza.edu.my/intelek/pages/view.php?ref=12884 https://intelek.unisza.edu.my/intelek/pages/search.php?search=!collection407072 Restricted Document Article Journal image/jpeg inches 96 96 norman 00 00 730 2016-03-15 13:23:45 1397x730 1397 7191-01-FH02-FP-16-05473.jpg UniSZA Private Access Harmonizing the interpretation of genetic variants across the world: The Malaysian experience BMC Research Notes Background: Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report summarises the issues surrounding the development of the Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial variants and other types of genetic variation have corresponding databases which are not covered here, as they have specific issues that do not necessarily apply to germline variations. Results: The ethical, legal, social issues, intellectual property, ownership of the data, information technology implementation, and efforts to improve the standards and systems used in data sharing are discussed. Conclusion: An overarching framework such as provided by the Human Variome Project to co-ordinate activities is invaluable. Country Nodes, such as MyHVP, enable human gene variation associated with human diseases to be collected, stored and shared by all disciplines (clinicians, molecular biologists, pathologists, bioinformaticians) for a consistent interpretation of genetic variants locally and across the world. 9 1 BioMed Central Ltd. BioMed Central Ltd. 1-7 1. Al Aama J, Smith TD, Lo A, Howard H, Kline AA, Lange M, Cotton RG. Initiating a human variome project country node. Human Mutation. 2011;32(5):501–6. 2. Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Genuardi M. Application of a 5-tiered scheme for standardized clas sification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genet. 2014;46(2):107–15. 3. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, denDunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32(5):557–63. doi:10.1002/humu.21438. 4. Al-Gazali L, Ali BR. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat. 2010;31(5):505–20. doi:10.1002/humu.21232. 5. Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. UMD (Universal mutation database): a generic software to build and analyze locus-spe cific databases. Hum Mutat. 2000;15(1):86–94. 6. Faroe Genome Project. http://www.fargen.fo/en/home/. Accessed 2 Nov 2015. 7. Sherry ST, Ward M-H, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucl Acids Res. 2001;29(1):308–11. doi:10.1093/nar/29.1.308. 8. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133(1):1–9. 9. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variants descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Human Mutation 29(1): 6–13. 10. Department of Statistics. Malaysia Year Book of Statistics. 2007. 11. Al Aqeel AI. Islamic ethical framework for research into and prevention of genetic disease. Nat Genet. 2007;39:1293–8. 12. Cotton RG, Sallee C, Knoppes BM. Locus–specific databases: from ethical principles to practice. Human Genet. 2006;26:489–93. 13. Madieha Ida. Personal data protection law: the Malaysian experience. Inform Commun Technol Law. 2007;6(2):126–35. 14. Halim-Fikri H, Etemad A, Abdul Latif AZ, Merican AF, Baig AA, Annuar AA et al. The first Malay database toward the ethnic-specific target molecular variation. 2015. 8:176. doi: 10.1186/s13104-015-1123-y
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| spellingShingle |
Harmonizing the interpretation of genetic variants across the world: The Malaysian experience
|
| summary |
Background: Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report summarises the issues surrounding the development of the Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial variants and other types of genetic variation have corresponding databases which are not covered here, as they have specific issues that do not necessarily apply to germline variations. Results: The ethical, legal, social issues, intellectual property, ownership of the data, information technology implementation, and efforts to improve the standards and systems used in data sharing are discussed. Conclusion: An overarching framework such as provided by the Human Variome Project to co-ordinate activities is invaluable. Country Nodes, such as MyHVP, enable human gene variation associated with human diseases to be collected, stored and shared by all disciplines (clinicians, molecular biologists, pathologists, bioinformaticians) for a consistent interpretation of genetic variants locally and across the world.
|
| title |
Harmonizing the interpretation of genetic variants across the world: The Malaysian experience
|
| title_full |
Harmonizing the interpretation of genetic variants across the world: The Malaysian experience
|
| title_fullStr |
Harmonizing the interpretation of genetic variants across the world: The Malaysian experience
|
| title_full_unstemmed |
Harmonizing the interpretation of genetic variants across the world: The Malaysian experience
|
| title_short |
Harmonizing the interpretation of genetic variants across the world: The Malaysian experience
|
| title_sort |
harmonizing the interpretation of genetic variants across the world: the malaysian experience
|