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Abstract Background Soon after whole genome sequencing was developed, it was validated for use in a clinical setting, now known as clinical genome sequencing or cGS. Mostly cGS is used for rare, undiagnosed diseases, where the patient’s symptoms and/or family…

Abstract The aspirational goal of diagnostic pathology laboratories is to always provide the right result for the right test on the right patient at the right time and with the right support. To deliver this outcome systematically, reliably, and safely…