(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 or for any information about how to acces to PolyPheMe software and purchase license, please contact us. (firstname.lastname@example.org)
Publication based on PolyPheMe Results analysis
1 Abi-Rached L, Gouret P, Yeh J-H, Di Cristofaro J, Pontarotti P, Picard C, et al. (2018) Immune diversity sheds light on missing variation in worldwide genetic diversity panels. PLoS ONE 13(10): e0206512. https://doi.org/10.1371/journal.pone.0206512
2 Camille Ribeyre, Federico Carlini, Céline René, François Jordier, Christophe Picard, Jacques Chiaroni, Laurent Abi-Rached, Philippe Gouret, Grégory Marin, Nicolas Molinari, Pascal Chanez, Julien Paganini, Delphine Gras, Julie Di Cristofaro, HLA-G haplotypes are differentially associated with asthmatic features. Front. Immunol. doi: 10.3389/fimmu.2018.00278