ACE Exome™ for Discovery Research

Ideal for researchers seeking the most comprehensive and accurate, yet cost-effective exome sequencing services for novel variant discovery.

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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.

Broadest, most optimized exome platform available for research

Key Features

  • 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

ABCD1 Gene Coverage Details

ACE Exome focuses on sensitivity and specificity vs. average depth to maximize true variation detection.

Simply sequencing more data does not fill in all coverage gaps

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

[Gb])

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
Screening ••• ••
Case-control •• ••• •••
Longitudinal / Prospective •• •••
Pedigree** •••
* Amount of data specified is average per sample.
** For applications requiring higher depth, please consult your sales representative to learn more about our complete ACE Exome configurations and offering.

Personalis® ACE Services for Research Selector

Research Areas
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