(Polymorphisms to Phenotypes for Medecine) is a software designed for polymorphism analyzes from any kind Of NGS data (Targeted, WES and WGS). While PolyPheMe is able to analyze all genomics regions, it was particulary usefull to study complex and high polymorphic genes and multifamily genes. Based on qualitative approach, this solution provides high accuracy results
A dedicated version to HLA typing is already available for differents HLA genes: HLA-A, B, C, E, F, G, DRB1 and DQB1. This version was successfully evaluated on 1,000 Genomes Project Panel with 99,7% of accuracy on heterogeneous quality data. Note that this genes, involved in histocompatibility, are the most polymorphic genes of human genome.
Other genes analyses are in development.
For more information about PolyPheMe, please contact us.