Publications by authors named "Jim Bale"

Article Synopsis
  • The practice of diagnostic medicine is shifting towards using comprehensive genomic data as the standard of care, moving from basic genetic testing to more complex exome and genome sequencing.
  • However, there’s a need for better tools to help doctors interpret the increasingly complex genomic findings.
  • Gene.iobio is a new, user-friendly web application that offers an interactive and visual way to analyze genomic data, making it easier for clinical providers to use this information for diagnosis and patient care without needing advanced technical skills.
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With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical settings, the practice of diagnostic medicine is undergoing a notable shift. However, the move from single-gene or panel-based genetic testing to exome and genome sequencing has not been matched by the development of tools to enable diagnosticians to interpret increasingly complex genomic findings. A new paradigm has emerged, where genome-based tests are often evaluated by a large multi-disciplinary collaborative team, typically including a diagnostic pathologist, a bioinformatician, a genetic counselor, and often a subspeciality clinician.

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