530 Lytton Ave Fl 2
Palo Alto, CA 94301-1541
Personalis Genome Services provides academic, pharmaceutical, and biotech researchers an accurate and comprehensive end-to-end human genome sequencing and analysis solution. Our services support researchers engaging in large case-control and family-based genome studies of complex or Mendelian diseases and traits, pharmacogenomics, and cancer. Focus On Accuracy And Comprehensiveness Inaccuracies in current sequencing and analysis solutions can lead to increased time and cost in the pursuit of false leads or omission of true positive results. Recognized issues include systematic and random errors that occur with multiple sequencing platforms, discordance in single nucleotide variants (SNVs) and indels called between platforms, poor accuracy for calling larger structural variants (SVs), and mis-interpretations made due to ethnic differences and shortcomings of the public reference sequence. Obstacles to accurate annotation include inaccuracies in publicly available database resources and inconsistencies in content coverage. To address these challenges, Personalis has developed proprietary methods and content resources to improve accuracy and comprehensiveness at each step of genome sequencing and data processing: (see figure on web site) 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 improving overall accuracy and yield. Furthermore, our proprietary ACE ExomeTM technology extends coverage of a typical exome to biomedically important regions outside the exome including regulatory regions and disease associated regions. Our laboratory includes Illumina HiSeqTM and MiSeqTM sequencing instruments, but we also work with customer-provided data including data from other sequencing platforms. A CLIA sequencing option is available. Advanced Pipeline Generates More Accurate Alignments and Structural Variant Calls 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. Curated Proprietary Content is Accurate and Comprehensive 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. 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 Services are Flexible Across a Broad Variety of Study Designs Personalis provides 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. Personalis can also frequently provide matched control genomes to complement cases from a customer. Finally, Personalis provides the option to have results reviewed and summarized in report format by Personalis Ph.D. scientists and genetic counselors.
Cancer; Central Nervous System; Genetic Diseases; Metabolic/Endocrinology Disorders; Ophthalmology
Drug Delivery Technologies
Next-Gen Sequencing; Pharmacogenomics
Clinical Development Stage