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 speifically 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."
Personalis offers Genome Services for Research to institutionally-based
researchers. We do not offer any services direct to consumers.
Although Personalis' lab is CLIA certified, our Genome Services for
Research are for research use only.
Personalis provides researchers and clinicians accurate DNA sequencing
and interpretation of human genomes. Our ACE (Accuracy and Content
Enhanced) Technology™ can supplement a standard exome
or genome, substantially increasing its medically-relevant coverage and
accuracy. Personalis builds on that with innovative algorithms and
proprietary databases for alignment, variant calling, annotation and
analysis. With this combination, we provide genomic data and
interpretation of the highest accuracy.
Personalis has an exceptional team of scientific, medical and industry
experts. Our R&D team brings directly relevant commercial experience
from seven different DNA sequencing companies and scientific & medical
expertise from the top universities in the world. This group has been
deeply involved in many of the advances of recent years, and has a long
track record of peer reviewed publications. We see enormous potential
in human genome sequencing's next big step: accurate interpretation.
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