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Updated: Aug 7, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
GENFILES: a computerized medical genetics information network. I. An overview
Abstract:
GENFILES is a comprehensive computer information network to serve research, service, and administrative needs in medical genetics. Four major databases contain detailed information generated by the cytogenetics laboratory, the prenatal diagnosis program, the diagnostic and genetic counseling clinics, and the human cell culture facility. Unique aspects are the use of RAMIS, a commercial database management system, and of microprocessor computers as "intelligent" terminals with significant data-handling capabilities. All databases are no-line in a directly accessed large timesharing computer. The system, which has been designed, controlled and maintained by regular genetics staff, is an easy to use, moderate-cost tool well suited for use as a regional clinical genetics information system.
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