North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2

Project: Research project

Project Details


In this project we are confronting the major challenges that stand between genomic medicine and its broad implementation as a diagnostic tool in a diverse population of patients.
Dr. Rini has been part of this project team since its inception and was instrumental in developing the project’s measurement and study protocols and in overseeing data collection for the longitudinal study of patients undergoing diagnostic exome sequencing in NCGENES. She will now assist with finalizing the study database and with conceptualizing, conducting, and reporting analyses using data from the study.
These materials and measures provide a foundation for further development of practical, ethical, and clinically oriented mechanisms to facilitate patient decision making about ES/GS data and its findings. We will use the previously described Genomic Knowledge scale to examine the role of genomic knowledge as a predictor of patient outcomes and as an important outcome in its own right. Other planned analyses will be conducted when our dataset is finalized.
Effective start/end date6/1/195/31/21


  • University of North Carolina at Chapel Hill (5115120//5U01HG006487-08)
  • National Human Genome Research Institute (5115120//5U01HG006487-08)


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