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Improving Detection of Genetic Variants with a New NGS 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.

Learn how 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 can help diagnostics companies save time and money, speeding up their research and development efforts.

Learn how this new benchmark can help labs & clinics:

  • Sequence challenging genes more accurately
  • Improve detection of medically relevant variants
  • Gain a better understanding of human disease
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