Exomiser
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. Cross-species phenotype comparisons are
powered by the OWLSim algorithm.
Exomiser is currently using mouse phenotypes and will soon be leveraging
the zebrafish phenotype data. Worm and fly phenotype data will be
available later this year.
Exomiser is available from the Sanger Institute. A paper describing Exomiser
is available here.