Clinical Genomicist Workstation

Description: The advent of genome-wide profiling technologies and their routine use in basic science and translational research is now promoting their application in the clinical setting. However, there are several potent informatics barriers that must be overcome before clinical sequencing can become routine. Good Laboratory Practice-based quality assurance metrics must be established to guarantee the accuracy required to make medical decisions. Genetic variants identified by sequencing must be systematically annotated and interpreted so that a clinical genomicist can decide which are medically actionable. Software applications and technologies are required to facilitate reporting of genomic results and to transmit these data to the electronic health record (EHR)



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