EXOMELOUPE

ExomeLoupe is a pipeline for the detection and annotation of variants in human exomes sequenced on the Ion Proton.

ExomeLoupe detects variants in the human exomes sequenced on Ion Proton with the Torrent Suite and filters variants to retain only the most accurate ones. Annotation is carried out within the GEMINI framework. The final results are loaded into a database.

ExomeLoupeViewer is a GUI (graphical user interface) for exome analysis. The user can filter the variants by gene, genotype, structural annotation, variant effect, known polymorphisms, population frequencies, phenotypes or regulatory regions.