ACE Platform™ Coverage

ACE Platform offers a more complete and accurate coverage

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ACE Exome vs. Standard Exome

Accuracy

ACE technology enables more accurate sequencing of biomedically interpretable variants found in problematic regions of the genome including gene families and pseudogenes, regions of high GC content, known structural variants, repeat sequences, homopolymers, and compressions. Our ACE technology identifies these regions, sequences them separately under optimized conditions, and then merges the data with standard sequencing to improve accuracy.

Coverage Outside the Exome

ACE technology covers biomedically important variants/regions outside the exome including non-exonic genetic variants linked to disease, non-exonic genetic variations linked to drug metabolism, regulatory sequence regions, structural variant junction sequences, and deep-intronic sites involved in splicing. Personalis ACE technology optionally supplements an exome in these biomedically critical regions by drawing on our comprehensive proprietary databases, providing the optimal results for biological discovery and medical interpretability.

Overall Coverage

Even with the best capture kits available today, exome sequence coverage is systematically less uniform than desired. Because of this, an average depth of coverage metric can be misleading, as some regions may have excessive coverage, while others are completely missed. By focusing on sensitivity and specificity of variant detection within target regions, Personalis optimizes coverage for biomedically important portions of the genome.

Process Optimization

Both whole genome and exome sequencing are detailed laboratory procedures. The Personalis team is experienced with protocol options at each step. Since we are not obliged to use any specific platform, we combine reagents and technologies from multiple vendors. Our primary goals are data quality and accuracy—critical for both research and clinical applications.

CLIA and CAP Accreditation, Documented Quality Systems

In achieving CLIA and CAP accreditation, Personalis has developed rigorous documented quality systems. These apply on many levels, from instrument calibration, personnel training and certifications, to careful QC. Although these steps have been taken in pursuit of clinical diagnostic accreditation, they are also appropriate for demanding research applications such as clinical trials.

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Better accuracy and comprehensive coverage