DataGenno: Building a new tool to bridge molecular and clinical genetics

Application of Clinical Genetics

Volumn 4, Issue , 2011, Pages 45-54

  Costa, Fabricio F ^a,b   Foly, Luciano S ^a   Coutinho, Marcelo P ^a  

^a DataGenno Interactive Research Ltd   (Brazil)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Database; Genetic diseases; Genomics; Molecular genetics; Search engine; Signs and symptoms

Indexed keywords

ARTICLE; CLINICAL GENETICS; COMPUTER INTERFACE; COMPUTER PROGRAM; GENE TECHNOLOGY; GENETIC DATABASE; GENETIC DISORDER; GENETIC ENGINEERING; GENOMICS; MATERIALS HANDLING; MEDICAL INFORMATION SYSTEM; MOLECULAR GENETICS; PHENOTYPE; SEARCH ENGINE; VALIDATION PROCESS;

EID: 79953148543     PISSN: 1178704X     EISSN: None     Source Type: Journal    
DOI: 10.2147/TACG.S17597     Document Type: Article

References (50)

1. Genetic Disease Information Available at: http://www.ornl.gov/sci/ techresources/Human_Genome/medicine/assist.shtml. Accessed January 1, 2011.
2. Human Genome Browser Available at: http://genome.ucsc.edu/. Accessed January 1, 2011.
3. National Center for Biotechnology Information Available at: http:// www.ncbi.nlm.nih.gov/. Accessed January 1, 2011.
4. Collins F. Has the revolution arrived? Nature. 2010;464:674-675.
5. Venter JC. Multiple personal genomes await. Nature. 2010;464: 676-677.
6. Thorisson GA, Muilu J, Brookes AJ. Genotype-phenotype databases: challenges and solutions for the post-genomic era. Nat Rev Genet. 2009;10:9-18.
7. PHP Available at: http://php.net/manual/en/intro-whatis.php. Accessed January 1, 2011.
8. MySQL Available at: http://www.mysql.com/. Accessed January 1, 2011.
9. Jquery Available at: http://jquery.com/. Accessed January 1, 2011.
10. AJAX Available at: http://www.dmoz.org/Computers/Programming/ Languages/JavaScript/AJAX/. Accessed January 1, 2011.
11. Maher B. Personal genomics: His daughter's DNA. Nature. 2007;449: 773-776.
12. Undiagnosed Diseases Program Available at: http://rarediseases.info.nih.gov/Resources.aspx?PageIDn31. Accessed January 1, 2011.
13. St. Hilaire C, Ziegler SG, Markello TC, et al. NT5E Mutations and Arterial Calcifications. N Engl J Med. 2011;364:432-442.
14. NORD - National Organization for rare Diseases Available at: http://www. rarediseases.org/search/rdbsearch.html. Accessed January 1, 2011.
15. Wrong Diagnosis Available at: http://www.wrongdiagnosis.com/. Accessed January 1, 2011.
16. Revolution Health Available at: http://www.revolutionhealth.com/. Accessed January 1, 2011.
17. Preliminary Estimates of Electronic Medical Record Use by Officebased Physicians: United States, 2008. Available at: http://www.cdc.gov/ nchs/data/hestat/physicians08/physicians08.htm. Accessed January 1, 2011.
18. DesRoches CM, Campbell EG, Rao SR, et al. Electronic health records in ambulatory care - a national survey of physicians. N Engl J Med. 2008;359:50-60.
19. Dossia Available at: http://www.dossia.org/. Accessed January 1, 2011
20. Google Health Available at: http://www.google.com/intl/en-US/health/ about/. Accessed January 1, 2011.
21. Microsoft Health Vault Available at: http://www.healthvault.com/personal/index.aspx. Accessed January 1, 2011.
22. WebMD Available at: http://www.webmd.com/. Accessed January 1, 2011.
23. Steinbrook R. Personally controlled online health data - the next big thing in medical care? N Engl J Med. 2008;358:1653-1656.
24. Tang PC, Lee TH. Your doctor's office or the Internet? Two paths to personal health records. N Engl J Med. 2009;360:1276-1278.
25. The National Alliance for Health Information Technology. Report to the Office of the National Coordinator for Health Information Technology on Defining Key Health Information Technology Terms, 2008.
26. London Dysmorphology Database Available at: http://www.lmdatabases. com/. Accessed January 1, 2011.
27. POSSUM Database Available at: http://www.possum.net.au/index.html. Accessed January 1, 2011.
28. OrphaNet Available at: http://www.orpha.net/consor/cgi-bin/Disease_ Search_List.php?lngSEN. Accessed January 1, 2011.
29. UpToDate Available at: http://www.uptodate.com/home/index.html. Accessed January 1, 2011
30. Online Mendelian Inheritance in Man (OMIM) Available at: http:// www.ncbi.nlm.nih.gov/omim. Accessed January 1, 2011.
31. HL7 Available at: http://www.service-architecture.com/xml/articles/ health_level_seven_hl7.html. Accessed January 1, 2011.
32. Scheuner MT, de Vries H, Kim B, et al. Are electronic health records ready for genomic medicine? Genet Med. 2009;11:510-517.
33. Mardis ER. The impact of next generation sequencing technology on genetics. Trends Genet. 2008;24:133-141.
34. Kidd JM, Cooper GM, Donahue WF, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008;453: 56-64.
35. Dolgin E. Talkin' 'bout my (third) generation. Nat Med. 2010;16:1053.
36. Branton D, Deamer DW, Marziali A, et al. The potential and challenges of nanopore sequencing. Nat Biotechnol. 2008;26:1146-1153.
37. Eid J, Fehr A, Gray J, et al. Real-time DNA sequencing from single polymerase molecules. Science. 2009;323:133-138.
38. Knome Available at: http://www.knome.com/. Accessed January 1, 2011.
39. Genomera Available at: http://genomera.com/. Accessed January 1, 2011.
40. 23andme Available at: https://www.23andme.com/. Accessed January 1, 2011.
41. Navigenics Available at: http://www.navigenics.com/. Accessed January 1, 2011.
42. Decode Genetics Available at: http://www.decode.com/. Accessed January 1, 2011.
43. Guttmacher AE, Porteous ME, McInerney JD. Educating health-care professionals about genetics and genomics. Nat Rev Genet. 2007;8: 151-157.
44. Zaghloul NA, Katsanis N. Functional modules, mutational load and human genetic disease. Trends Genet. 2010;26:168-176.
45. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362:1181-1191.
46. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet. 2010;42:30-35.
47. Roach JC, Glusman G, Smit AF, et al. Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing. Science. 2010;328: 636-639.
48. Lalonde E, Albrecht S, Ha KC, et al. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by nextgeneration exome sequencing. Hum Mutat. 2010;31:918-923.
49. Giallourakis C, Henson C, Reich M, et al. Disease gene discovery through integrative genomics. Annu Rev Genomics Hum Genet. 2005;6: 381-406.
50. Kuhlenbäumer G, Hullmann J, Appenzellerm S. Novel genomic techniques open new avenues in the analysis of monogenic disorders. Hum Mutat. 2010;32:144-151.