Analysis Settings | Filtering summary | Variant type distribution | Prioritized Variant List | About

Analysis Settings

Settings used for this analysis:

settings

Filtering Summary

Filter Parameters Variants passed filter Variants failed filter

    Variant type distribution

    Variant Type Sample name 1 Sample name 2

    Analyzed samples

    affected: red, parent of affected: light blue, unaffected: white

    Sample name: manuel
    fam fathID mothID sex disease


    Prioritized Variant List

    Variant Variant analysis Phenotypic analysis
    Pathogenicity: Frequency

    About

    The Exomizer is a Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF file (version 4). The functional annotation code is based on Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates

    Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, and model organism phenotype data. Predicted pathogenicity data was extracted from the dbNSFP resource.

    Developed by the Computational Biology and Bioinformatics group at the Institute for Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin and the Mouse Informatics Group at the Sanger Institute.