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Genomics: Clinical Implementation

This channel includes news headlines and educational resources regarding the clinical implementation of genomics assays, including development, validation, quality control, standardization, and the practical and commercial considerations for labs adopting these tests. 

Researchers at Baylor College of Medicine and Columbia University found that almost all blood samples from pregnant women tested contained several trophoblasts.

In a proof-of-principle study, Ohio State University researchers compared the nanopore sequencing assay to short-read sequencing and capillary electrophoresis.

The team will present the results to the US Food and Drug Administration as part of a 510(k) application in order to commercialize the technology with Biofluidica.

The guidelines place a stronger emphasis on pancreatic cancer risk genes, and broaden testing recommendations for those with Ashkenazi Jewish ancestry.

A survey by University of Nebraska researchers found that both specialists and primary care healthcare providers largely interpreted genetic testing results correctly.