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This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.
The researchers believe using cerebral spinal fluid will enable them to identify brain tumors with a higher sensitivity than with blood samples.
The researchers said that their blood-based ddPCR assay could differentiate men with prostate cancer who have numerous copies of the androgen receptor gene.
The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.
