Powerful knowledge bases support clinical interpretation and provide diagnostic support.
A knowledge base subscription provides an easy and contextualized access to the knowledge base of a specific clinical specialism. The knowledge can be used by the genetics lab to support filtering and annotation of genetic variants, or by clinicians while requesting a genetic test or interpreting the test results and performing the diagnostic work-up of a patient.
- Cartagenia’s knowledge solutions keep you connected to the standard of practice in your domain of expertise.
- Knowledge is contextualized towards the patient to highlight only the most relevant findings for the case at hand.
- Variant filtering and advanced statistical analyses are transparent and connect seamlessly with the underlying data for optimal confidence in diagnoses reached.
BENCH lab - Knowledge libraries
Knowledge libraries are curated sources of knowledge that are often specific to a certain clinical specialism or phenotypic domain – heart defects, mental retardation, autism, domains within oncology, prenatal diagnosis, etc. These specific knowledge sources enhance filtering and classification of genetic variants.
Upcoming knowledge libraries
- Oncogene filter
- Haplo-insufficiency filter
- BENCH community CNV sets
BENCH clinic - Knowledge bases
Cartagenia offers domain-specific knowledge within a couple of key domains. For each of these domains a multitude of information sources is compiled, curated, formatted, and embedded within the BENCH software. The knowledge bases integrate and provide an easy access to information which is indispensable when providing genetic diagnosis.
Upcoming knowledge bases
- Mental Retardation (MR / MCA)
- Cardio-pathology (CHD)
- Autism spectrum disorders (ASD)
- Prenatal screening