Better Analysis and Diagnostics
Comprehensive analysis to improve diagnostic yield
For clinical reporting, Personalis utilizes a highly structured approach to analysis and interpretation, delivering results in a concise, intuitive and actionable report. For research studies, we offer a wider range of analysis options, appropriate to your study design. All our analyses benefit from the robust upstream sequencing, analysis, and variant annotation technologies that constitute the ACE Platform.
- FIGURE 1:
- Example of a manhattan plot generated for a case control study.
Analysis Types for Research
The ACE Platform utilizes an advanced human reference sequence, which addresses numerous issues found in the public reference. The current public reference (hg19) contains a minor allele at over a million positions, thousands of which are associated with disease (e.g., Factor V Leiden, rs6025). The distinction of major vs. minor allele also differs between ethnicities, sometimes dramatically. This causes several issues, including:
- Disease vs. Non-Disease Case-Control Studies
- Pharmacogenomics/Drug Response Studies
- Adverse Events Studies
- Rare Genetic Syndrome Cases (Pediatric or Adult)
- Multiple Trio Studies
- Proband-only studies
- Family Trios and Larger Pedigrees
- Tumor vs. Normal Studies
ACE Clinical Exome™ Test
The ACE Clinical Exome test utilizes phenotype and inheritance pattern information to prioritize candidate variants. Potentially causative variants are manually reviewed, classified and reported according to ACMG guidelines.
- FIGURE 2:
- ACE Clinical Exome Test sample report.