ACE Platform for Clinical Overview
Provides clinicians a comprehensive, accurate, end-to-end sequencing and analysis solution designed to address the most challenging diagnostic questions
Sample Prep and Sequencing
Sequencing Enhancements Improve Accuracy and Interpretability
The ACE Clinical Exome Test is optimized to improve sequence coverage over coding regions of biomedically important genes that are typically difficult to capture and sequence. By improving coverage of over 8,000 genes in this way, we increase our sensitivity to detect variants in these genes. To facilitate structural variant detection we developed a novel sequencing-based methodology. In addition, our Accuracy and Content Enhanced (ACE) technology extends coverage beyond that of a typical exome enabling detection of known pathogenic variants that lie in regions outside of the exome, e.g., in introns, UTRs, and promoter regions.
Alignment and Variant Discovery
Personalis has developed a state-of-the-art bioinformatics pipeline implementing best-of-breed algorithms, tested and optimized for accuracy and performance, resulting in superior sequence alignments and variant calls. Features include improved SNV detection and improved indel detection. In addition, we have made enhancements to the public reference sequence (GRCh37), creating a more representative template to align sequences against, further improving accuracy. In order to more comprehensively assess an individual’s genetic constitution, the ACE Platform also incorporates bioinformatics solutions to detect aneuploidy, and to assess the degree of homozygosity (both for the detection of consanguinity and for the detection of isodimeric uniparental disomy).
The Personalis Database Annotation Engine integrates information about the detected variants from a wide range of databases providing up-to-date information with respect to variants, genes, and phenotypes. Information from a vast array of public and commercial databases and tools is brought together with information from our own highly accurate, manually curated databases, to assist in variant interpretation.
Analysis and Interpretation
Personalis takes a phenotype-driven approach to analysis and interpretation, aiming to decrease reliance on variant filtering to identify causative variants. We integrate multiple types of genetic information derived from the exomic data, facilitating a more thorough interpretation process. Our reports are designed to be concise, intuitive, and actionable, and we engage an expert team of geneticists on our medical review board.