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.