The clinical interpretation of variants is time-consuming and requires attention to details. Clinicians are being asked to thoroughly review any variants that could potentially cause disease. There are guidelines for the interpretation of variants relating to hereditary risk, germline diagnostics, and molecular oncology panels, such as those issued by the American College of Medical Genetics (ACMG), which are nationally and internationally recognized.
The final variant classification and reporting status often require adjudicating multiple lines of evidence, following decision graphs and evidence weighing systems. Automation of this process eliminates the problems associated with human error and individual subjectivity. Finally, automation of the informatics, along with guided workflow reduces the time and effort required for molecular pathologists and medical geneticists to sign off on clinical reports.
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