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IntelliSpace Precision Medicine Genomics
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Our decode module is molecular test agnostic. We work with a variety of tests from sequencing by synthesis (SBS), semiconductor, and nanopore sequencing techniques to identifiy genomic abberations.
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Our customizable knowledgebases act as a collection of annotated associations between genomic aberrations and related phenotypes. Our machine learning leverages growing data.
Each entry in the knowledgebase is a documented genomic aberration association, which is relevant to understanding genomic drivers of disease and treatment response.
Doctors and qualified personnel are allowed to curate this knowledgebase and to continue to enter observations.
The goal is to provide consistent and transparent clinical interpretation of patient genomic data for:
1. Improved diagnosis and treatment options
2. Targeted therapy development: research and discovery of variant associations for new therapeutic innovations
Configurable prioritized list of variants from with information on location, functional annotation and QC information.
Identify and verify variant detail against literature or your own knowledgebase.
Find variant-specific indications from literature references.
Match offers clinicians molecular decision support by leveraging literature mining, clinical trial data, and selected knowledgebases.
A pilot study using 80 clinical discharge summaries revealed that our ontology-driven semantic search framework effectively improves clinical task workflow and can contribute to the decision making process of the clinicians through faster, and more accurate information retrieval and visualization at the point of care.1
To speed up the reporting workflow, we uniquely embed the N-of-One variant database or your own curated knowledgebase natively on the platform. This integration enables lighting-up clinically actionable variants through filtering for rapid selection.
Our unique integration with N-of-One brings together one of the most
comprehensive genomic databases right inside IntelliSpace Genomics. This is in addition to all of the available public data sources the platform brings for comprehensive annotation, filtering and reliable prioritization.
To focus on information and/or actionable variants from the large number detected by NGS, we provide flexible and visual filtering options. To make the filters easily accessible, we have classified them in QC, frequency, functional impact scores and database presence categories. Our visual filtering interface displays distribution of variants by read depth and allele frequency so that you can optimize your filters at a glance.
