Table of contents
Allelica Modules User Guide
Impute App User Guide and Benchmark

Introduction

Generate, Validate and Calculate Polygenic Risk Scores

Allelica enables users to impute Low-Coverage and Microarray data, discover new Polygenic Risk Scores (PRSs), validate their predictive performance and construct reports on individual PRS.

This user guide provides assistance for:

Allelica Modules

The Allelica Modules support 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. Researchers wishing 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 a person's genetic makeup. Allelica's SaaS provides a set of tools 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).

Low Pass Impute

Low Pass Impute allows users to analyze their data directly from Illumina's dashboard.