Emma Perez, Genetic Counselor — This year was kicked off by the publication of the NSGC Practice Resource for Clinical Counseling/Translation of Polygenic Scores, put together by Wand et al. — a stellar team of leaders in the PRS field. …

George Busby, Allelica CSO & Co-Founder We’ve previously written about how you can use Allelica’s DISCOVER software to build new polygenic risk scores (PRS) and to deploy them at scale with PREDICT. While a PRS provides an accurate assessment of someone’s genetic liability of disease, this number on its own…

This week, scientists from the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog published a paper in Nature introducing the Polygenic Risk Score Reporting Standards (PRS-RS). The work outlines the minimum set of data to allow scores to be faithfully interpreted and transparently evaluated. …

Cardiovascular disease is the leading cause of death worldwide, with recent estimates putting the global death toll at around 18 million each year. It is also a major burden on populations and health systems, contributing to a reduction in the quality of life for millions of people and treatment costs…

In our previous articles on Allelica’s PRS pipeline, we ran through how you can use our DISCOVER module to build your own PRS for a disease or trait of interest, as well as how our VALIDATE module can be used to test the predictive power of a new or existing…

Essential testing of your PRS on an independent population In our previous articles outlining Allelica’s PRS pipeline we described how users can impute genotype or low coverage sequencing data and build their own PRS using our cloud-based computing platform. …

A user friendly, cloud-based computing solution to build state-of-the-art, publication ready polygenic risk scores The DISCOVER module allows users to build their own polygenic risk scores (PRS) from genetic data and summary statistics from a Genome Wide Association Study (GWAS). In this piece, we’ll run through what the DISCOVER module does and the outputs that it can provide to help users understand the strengths…

Fast and scalable genome imputation of Low-Coverage WGS and Microarray data in just minutes Allelica’s PRS pipeline is built around a set of interconnected modules. Each module is designed to give the user enough control to run it as needed whilst leaving all the hard computational work behind the scenes. Which modules a user needs will depend on their specific needs, but the complete…

Within the last two decades, and upon completion of the world’s largest biological project in 2003, interest in the human genome and its effect on health and disease risk has soared. …