Feb 14 2013
Personalis, Inc. today announced availability of its Genome Services for Research, focusing on accuracy in sequencing, analysis, and interpretation of human genomes. Personalis believes that accuracy is crucial in medicine, both in research and ultimately in clinical use. We support researchers engaging in case-control, family-based, or proband-only genome studies of disease, pharmacogenomics and cancer. Personalis today also released a major revision to its web site (www.personalis.com) describing in detail the new services offered, the applications served, the technological innovations, and the team behind it all.
Personalis ACE (Accuracy and Content Enhanced) Technology™ augments exome and whole genome sequencing by targeted capture of regions that are difficult to sequence. Optimized sample prep and library construction methods are then used to address each of those challenges and, after sequencing, all of the data is combined. ACE Exomes™ are also augmented by targeted capture of thousands of regions, each with medically interpretable content, located outside the exons. ACE Technology™ provides higher accuracy and more content than can be achieved by standard sequencing and bioinformatic analysis alone, because we specifically generate the raw reads required to achieve this goal as a foundation. To confirm our accuracy, we have compared data from four different platforms and conducted deep genome sequencing studies on large multi-generation pedigrees.
Personalis also offers alignment and variant calling relative to an improved version of the human reference sequence. At over a million loci, bases now known to be minor alleles have been replaced with the corresponding major alleles. Thousands of these loci have published associations with disease. When the conventional reference sequence is used, an individual homozygous for one of these minor alleles is not reported as "variant". In a typical human genome, this loss occurs at over 50,000 loci. With the Personalis reference sequence, such minor alleles are detected.
Clinical quality genome interpretation requires accurate and comprehensive databases of genetic variation. Personalis has the largest and most comprehensive manually-curated database in the world linking genetic variation with disease. We have also signed an exclusive license for commercialization of PharmGKB®, the premier database linking genetic variation with drug metabolism and adverse events. Personalis also annotates genomes with information from over 30 databases.
Personalis CEO John West said, "Based on feedback from our first customers, we are increasingly convinced that our emphasis on accuracy, both in sequencing and interpretation, is essential for medical applications. Personalis' approach to this challenge is unique and we look forward to working with customers worldwide."