Personalis®

FAQs

FAQs 2016-12-03T06:23:56+00:00

Frequently Asked Questions

What does Personalis provide?
Personalis provides researchers and clinicians accurate DNA sequencing and interpretation of human exomes and genomes. We support researchers engaging in case-control, family-based, or proband-only genomic studies of disease, pharmacogenomics, and cancer. Our ACE (Accuracy and Content Enhanced) Technology supplements a standard exome or genome, substantially increasing its medically-relevant coverage and accuracy. Personalis builds on this enhanced sequencing foundation with innovative algorithms and proprietary databases for alignment, variant calling, annotation, and analysis. Through this comprehensive approach, we provide genomic data and interpretation of the highest accuracy. Our in-house laboratory is CLIA-licensed by the state board of California and CAP-accredited.
What is exome sequencing?
The human exome is the complete collection of regions of the genome that encode protein i.e., all the protein-coding exons of all the protein-coding genes. These regions of the genome are the best understood and therefore the most biomedically interpretable.
Whole exome sequencing is the process of selecting and then sequencing these regions of the genome using NGS technology. A whole exome sequencing test therefore involves sequencing the patient’s exome in a single test with the aim of arriving at a diagnosis, rather than choosing individual genes to sequence. Exome sequencing offers potential advantages over traditional genetic testing approaches by reducing costs and time to diagnosis, and making certain difficult diagnoses possible.
Why use Personalis?
Personalis provides researchers and clinicians accurate DNA sequencing and interpretation of human exomes and genomes. We support researchers engaging in case-control, family-based, or proband-only genomic studies of disease, pharmacogenomics, and cancer. Our ACE (Accuracy and Content Enhanced) Technology supplements a standard exome or genome, substantially increasing its medically-relevant coverage and accuracy. Personalis builds on this enhanced sequencing foundation with innovative algorithms and proprietary databases for alignment, variant calling, annotation, and analysis. Through this comprehensive approach, we provide genomic data and interpretation of the highest accuracy. Our in-house laboratory is CLIA-licensed by the state board of California and CAP-accredited.
How is sequencing enhanced?
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.
How is alignment and structural variant calls different?
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.
How is annotation different?
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.
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.
How are analysis and interpretation different?
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.
What configurations are offered?
For Research Applications, we offer 3.5, 5, 6, 8, 12, 16 Gigabase (Gb) average output per sample. Please visit the Research Services page.