CENTRALIZED FRAMEWORK FOR STORING, PROCESSING AND UTILIZING PROPRIETARY GENETIC DATA

摘要

Disclosed are systems and methods for carrying out medical testing. The systems and methods allow for the creation of, and use of, a medical test. The systems and methods can provide for the use of proprietary information in the medical testing from multiple proprietary rights holders. The system and methods allow for protection of the proprietary information while allowing users to receive test results. Also disclosed are systems and methods for facilitating detection of structural variants in a genetic sequence that are not readily detectable when the genetic information is sequenced using short read data. The system and methods identify parameters that co-vary with the not readily detectable structural variants, and use the co-varying parameters in order to determine the existence of the structural variants.