ACE Exome™ for Discovery Research
Ideal for researchers seeking the most comprehensive and accurate, yet cost-effective exome sequencing services for novel variant discovery.
Go Beyond the Standard Exome
Personalis® ACE Exome™ for Discovery Research offers the most up-to-date and comprehensive exome coverage of any commercially available service. Based on the ACE Platform™ our end-to-end research service solution is ideal for researchers seeking the most comprehensive and accurate, yet cost-effective results.
The Personalis ACE Exome for Discovery Research
augments a standard exome by supplementing
coverage of over 8,000 genes of known biomedical
importance, enabling variants to be identified more
accurately and reliably in these regions. The ACE Exome also
provides coverage of regions outside the exome, including ~12,000 regulatory regions and ~25,000 functionally important intergenic regions, e.g., those associated with disease or highly conserved across species. This highly accurate and sensitive assay has a footprint of ~93MB, the broadest and most optimized exome platform available for research.
- Comprehensive, curated content set for novel genomic discovery beyond the standard exome
- Enhanced coverage of difficult to sequence regions, such as high GC
- Highly accurate alignment and variant calling
- Enhanced reference genome
- Extensive variant annotation which integrates more than 40 databases
- Easy to read interactive QC reports and performance summaries
Average Depth vs. Detection Sensitivity
ABCD1 Coverage Details
ACE Exome focuses on sensitivity and specificity vs. average depth to maximize true variation detection.
Maximizing Variant Detection
ACE Exome for Discovery Research has been optimized to provide the maximum number of biomedically relevant or high-value variants for your project with an average of 3.5 to 6 Gigabase (Gb) of sequencing per sample. We maximize the number of high-value variants for your research project by incorporating the following three approaches:
- Filling in coverage gaps found in standard exomes
- Evening out coverage
- Adding biomedically relevant content outside the exome
Configurations Offered (in Gigabase
- 3.5 GbACE Exome
- Our most economical option optimized for larger studies. This exome offers access to our premium content at the most economical price.
- 5 GbACE Exome
- Our standard offering for researchers. Provides access to our premium content and additional depth of sequencing.
- 6 GbACE Exome
- Our high level offering for researchers who want optimized content at a greater depth of sequencing for increased SNV and Indel detection.
- Exome DataAnalysis Only
- For customers with legacy exome data, we can utilize our advanced variant calling and annotation capabilities to extract the best results from your data.
Product Selection Guide
|ACE Exome™ for Discovery Research*|
|Study Type||3.5 Gb||5 Gb||6 Gb|
|Longitudinal / Prospective||••||•••|
Personalis® ACE Services for Research Selector
|Features||Discovery Research||Clinical Research||Cancer Research|
|Optimized for||Cost-effective variant discovery in large-scale studies||Maximum variant detection for every sample||Accurate and comprehensive analysis of cancer samples with enhanced coverage of over 1,400 cancer genes|
|Output (Gigabase [Gb])||3.5, 5, 6 Gb – average output per samples||8, 12, 16 Gb – minimum output guarantee||8, 16 Gb – minimum output guarantee|
|Example study types||Screening, case control, longitudinal, pedigree||Clinical research, FFPE sequencing, and low input DNA studies||Tumor only / tumor pairs|
|Minimum sample committment||YES – increments of 24 for fewer than 96 samples||NO||NO|
|Analysis included||FASTQ, QC, and performance summaries||FASTQ, QC, and performance summaries||FASTQ, QC, and performance summaries|
|Additional analysis and annotation||Aligned BAM, VCF, and VAR file with more than 40 public and proprietary databases||Aligned BAM, VCF, and VAR file with more than 40 public and proprietary databases||Cancer-specific analysis and annotation including somatic VAR, VCF, and annotation including COSMIC and Cancer Gene Census|