Whole genome clinical validation study

technical note

 

Last week at the American Society of Human Genetics annual meeting we presented our poster on the clinical validation of our Genomic Unity™ whole genome sequencing pipeline. This is the pipeline that supports our full Genomic Unity™ Exome Plus Analysis as well as our more targeted analyses, including Genomic Unity™ Movement Disorders Analysis and others.

We presented data demonstrating detection of:

  • SNVs and indels with sensitivity of >99.8% and specificity of 100%
  • Mitochondrial heteroplasmy down to 5%
  • Structural variants from one exon in size to whole chromosome trisomies with overall clinical sensitivity of >96%
  • Tandem repeat expansions with variance of +/- 1 repeat for shorter repeats, up to +/- 20% of the repeat length for longer repeats

All as part of our single method approach to comprehensive genetic testing.

If you weren’t able to stop by ASHG, you can still see the data by downloading our technical note:

Once you’ve read the clinical study, we’re confident you’ll be as enthusiastic as we are about the utility of Genomic Unity™ testing.

 

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