Knome, Inc., today announced the start of its early technology access
program for knomeCLINIC, a software suite designed to help medical
researchers and clinicians interpret human genomes for biological
relevance. Clinics accepted into the early access program will be given
installation priority, access to pilot programs and pre-release
prototypes, and the ability to influence knomeCLINIC's feature set upon
general release.
On release, knomeCLINIC will consist of the following components:
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kGAP™: a robust, scalable, and extensible
informatics and annotation platform that serves as the technical
foundation for knomeCLINIC's desktop interpretation-support
applications. kGAP accepts raw sequence data from major sequencing
platforms—generating standardized, annotated data sets.
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Desktop interpretation-support applications:
applications that allow medical researchers and clinicians to identify
the genetic variants, genes and pathways that underlie disease and
tumor growth—helping them conduct longitudinal studies, better
understand both rare and common diseases, and evaluate personalized
treatment regimens.
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Knowledge database: a database of
Knome-curated and harmonized reference data from more than a dozen
sources, containing over 100,000 genotype-phenotype associations.
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Curation applications: software that
enables researchers, physician practice groups, and medical
institutions to curate and prioritize genotype-phenotype associations,
whether publically available or self-generated.
"The shift to integrate whole genome information into clinical diagnosis
and patient management is evolving rapidly, driven by steadily falling
sequencing costs and improved understanding of actionable genetic data,"
said Martin Tolar, MD, PhD, Chief Executive Officer of Knome. "With the
launch of our early access program for knomeCLINIC, we are excited to
begin collaborating with top-tier medical institutions in order to
ensure that our software is optimized for the needs of clinical genomics
and expectations of our initial partners."