Data Transfer for Whole Genome Analaysis in the Clinical Setting


Abstract

The concept of whole genome analysis has flourished since 1990, when the Human Genome Project was initially endeavored. Since that time, there have been massive improvements in both the cost and efficiency of the technology available for genetic testing. Given current medical trends toward more personalized care and the utility of genomics toward this goal, the integration of whole genome analysis into the clinical setting is increasingly imminent. Surprisingly, the rate-limiting step in the advancement of whole genome analysis in the clinical setting has actually been the technology available to store, manage, and process what will surely be the massive amount of data generated. One critical need of these technologies is to establish a known database of “control sequences” against which patient sequences can be compared when being evaluated for disease-causing sequence variants. This database must be accurate, accessible, and up-to-date, while simultaneously able to be seamlessly integrated into the overall Laboratory Information System that will house this infrastructure. It is the goal of this project to write a program that is capable of transferring “normal” gene sequences from GenBank (NCBI) to a separate database to serve as a potential template for a program capable of satisfying this need for control sequences
Poster
non-peer-reviewed

Data Transfer for Whole Genome Analaysis in the Clinical Setting


Author Information

Pouya Ameli Corresponding Author

University of Central Florida College of Medicine


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