ACE Clinical Exome™ Test Enhances Diagnostic Yield; Personalis to Present Results of 2nd Generation Augmented Exome at ACMG
Menlo Park, CA – March 26, 2014 – Personalis, a leader in exome and genome sequencing and analysis, will discuss results of its ACE Clinical Exome test at the American College of Medical Genetics meeting this week in Nashville, TN. The ACE Clinical Exome provides the highest level of medical gene finishing available among clinical exomes by enhancing coverage of over 7,000 biomedically important genes, including additional coverage of high GC regions of the exome which are often poorly covered by other exomes. Personalis has further enhanced its exome test with the inclusion of over 12,000 regulatory regions of known functional significance. “By combining our unique sample prep capabilities, our improved human reference genome, our high accuracy sequencing and analysis methodologies, and our extensive annotation engine that integrates over 40 databases, we have aimed to significantly enhance the diagnostic yield of our clinical exome test,” said Richard Chen, M.D., Personalis’ CSO.
The ACE Clinical Exome test also includes genome-wide structural variant (SV) information. The addition of genome-wide SV information, along with Personalis’ high accuracy single nucleotide variant (SNV)/small indel detection capabilities and its sophisticated analysis system enables calling of compound SV/SNV heterozygotes for the first time in a clinical exome. “We know that SNVs and small indels, as well as structural variants can cause significant functional changes to genes, but until now there was no clinical exome available that could integrate these types of information. The result of this has been that a major category of genetic variants known to cause disease have been ignored in other clinical exomes. The ACE Clinical Exome test addresses this shortcoming for the first time,” said Chen.
The ACE Clinical Exome test is based on the second generation ACE Platform. Since the launch of its first augmented ACE Exome in February of 2013, Personalis has received orders for more than 5,000 samples.
Personalis will present results at the ACMG meeting with 7 poster presentations as well as an exhibitor talk on Friday, March 28th. Personalis representatives will also be available on the exhibit floor at booth #312.