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Genome-wide analysis for genetic predisposition to a variety of wellness and health-related traits.
The Polygenic Risk Score (RPS) analysis assesses an individual’s predisposition
to a particular trait or disease by combining information on multiple genetic variants across the genome. The quantification of the cumulative effect of multiple genetic variants allows determination of an individual’s relative risk, thereby empowering
the implementation of personalized medicine strategies, such as customized preventative measures tailored to an individual’s unique genetic makeup.
Calculate risk scores for over 6,000 traits with Intelliseq Polygenic algorithm
How it works
Define the scope of PRS analysis
Select traits for polygenic risk score (PRS) analysis.
Genotyping of raw NGS data
Advanced NGS data processing and quality control tools to genotype positions across the entire genome that are associated with selected traits.
Phasing and imputing
Enhanced accuracy and completeness of polygenic risk score calculations with sequence phasing and filling of missing genotype data.
Risk
Advanced models involve aggregating and weighting variants based on their individual effect sizes to generate a collective score reflecting genetic predisposition to a trait.
Raport generation
Intuitive and interactive HTML-based report with comprehensive interpretation of results.
GeneSpect™️ PRS Reporter aggregates guidance from knowledge resources including:
GBK
Global BioBank
Engine
PGS Catalog
The Polygenic Score
Catalog
Genebass
Gene-based association
statistics
GWAS Catalog
The NHGRI-EBI Catalog of
human genome-wide association studies
GeneSpect PRS Health-related Reporter
Information on other factors that may influence the risk of developing the disease
GeneSpect PRS Wellness-related Reporter
To provide essential context for interpreting the results, a comprehensive description of both the trait being analyzed and relevant environmental factors is provided. The report also provides instructions on how to interpret the results, as well as recommendations and guidelines for best practices and preventive activities that can reduce the risk of developing disease.
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