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Accelerating the Development of Diagnostic Tests with a New Benchmark
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"Accelerating the Development of Diagnostic Tests with a New Benchmark"

Many genes that cause disease have yet to be studied. Some of those genes have escaped characterization because they were hard to assess using previous sequencing technologies.

The introduction of new technologies in recent years has advanced the research community’s ability to understand the role of challenging, medically relevant genes in disease development. Currently, most diagnostic companies focus their test development efforts on well-characterized genomic markers that are easier to detect and interpret.

This white paper from DNAnexus describes a new benchmark developed by the Genome in a Bottle Consortium, led by the National Institute of Standards and Technology, Baylor College of Medicine, and DNAnexus, to provide diagnostic companies with resources required to validate their protocols and methods for new medically relevant targets.


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