Allelica User Guide
Create, Calculate, and Validate Polygenic Risk Scores
Allelica enables users to construct reports on individual/s Polygenic Risk Scores (PRSs).
This user guide provides assistance for 2 Allelica products:
Low Pass Impute
Low Pass Impute allows users to analyze their data directly from Illumina's dashboard.
Allelica App
The Allelica App supports the following functions:
One of the major barriers to PRS usage in clinical practice is the computational complexity needed to calculate per-individual PRSs. Extensive bioinformatics expertise is required to run the entire pipeline, from imputing genomic data, through quality control to result visualization. For these reasons, we developed Software as a Service (SaaS) for genomic risk prediction of complex diseases. Allelica's SaaS is fully automated, GDPR complaint and has been certified as a CE-marked medical device. This tool is freely available for research purposes. Researchers who wish to use this SaaS can contact us directly.
The synergy of large Human Genome Biobanks with improved statistical methods to model genomes has revolutionized our ability to predict phenotypic expression from an person's genetic makeup. Allelica's SaaS provides a tool set to estimate disease risk. The PRS metric that Allelica provides estimates the genetic risk of an individual to develop a disease, based on a combination of a large number of genetic variants.
Allelica utilizes the largest prospective genotyped cohort available to date, the UK Biobank. The predicted efficacy of this SaaS tool has been confirmed against Coronary Artery Disease (CAD), Breast Cancer (BC), and Prostate Cancer (PC) at the time of writing (May 2020).
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