Scientific Publication 

Unmet Needs in Human Genomic Variant Interpretation

Author(s): Bauer, Dr. Peter, MD

The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent interpretation can produce either a negative or a positive effect.

The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent interpretation can produce either a negative or a positive effect, depending on the quality of the “wet-bench” preparation.


Read publication (PDF)