ACE Platform Overview
Provides clinicians and researchers a comprehensive, accurate, end-to-end sequencing and analysis solution to address the most challenging research and diagnostic questions.
Sample Prep and Sequencing
Sequencing Enhancements Improve Accuracy and Interpretability
Personalis provides Exome and Whole Genome Sequencing services that are optimized to improve performance over known problematic regions of the genome, thus increasing overall accuracy and yield. Our proprietary Accuracy and Content Enhanced (ACE) Exome™ technology extends coverage of a typical exome to biomedically important regions outside the exome including regulatory regions and disease associated regions.
Alignment and Variant Discovery
Personalis has a state-of-the-art pipeline implementing best of breed algorithms, tested and optimized for accuracy and performance resulting in superior alignments and variant calls. Features include improved SNV/indel calling, improved structural variant (SV) calling, detection of variants of low complexity, an option to use Personalis enhancements to public reference (HG19), and extensive read, alignment, and variant statistics for publication and QC.
Personalis has comprehensive, high-quality, high depth, manually curated proprietary databases that enable annotation and analysis of complex and Mendelian disease, and drug response. This content covers regions both within and outside the exome. The quality and comprehensiveness in these databases results in more accurate analysis and interpretation, saving time and cost for the researcher and yielding better results for the clinician.
Comprehensive Annotation Engine Integrates Data from Broad Range of Databases for Annotating SNVs and SVs
The Personalis Database Annotation Engine covers a broad range of databases providing gene annotations, population frequencies, regulatory elements, problematic regions, mutational impact, conservation, SNP and indel annotations, structural variant annotations, variant to Mendelian and complex disease associations, networks, pathways, functional annotations, and drug targets. The extensive set of annotations allows for enhanced filtering and computational analysis.
Analysis and Interpretation
In addition to its clinical services, Personalis provides researchers with analysis options for case-control and family-based genome studies, including methods for collapsing and calculating statistically significant enrichment for variants, genes, diseases and pathways that draw on Personalis’ proprietary content and public database content. Analyses are performed under a variety of inheritance models and filtering criteria depending on the study design. The end result is a short list of highly qualified variants. For many studies, Personalis can provide matched control genomes to complement cases from a customer. Personalis also offers the option to have results reviewed and summarized in report format by Personalis Ph.D. scientists and genetic counselors.