Our disease-specific algortihm is an experimental method for ranking protein missense mutations according to seventeen disease concepts.
Variants with a higher likelihood of being associated with the disease of interest are ranked higher than those variants which are unlikely
to be associated with the disease of interest.
For more information, please refer to the following publication:
Our software and server accepts one of the following formats (see here for annotating VCF files):
<protein> <substitution>
dbSNP rs identifiers
<protein> is the protein identifier and <substitution> is the amino acid substitution in the conventional one
letter format. Multiple substitutions can be entered on a single line and should be separated by a comma. Our server accepts SwissProt/TrEMBL, RefSeq and Ensembl protein identifiers, e.g.:
P43026 L441P ENSP00000325527 N548I,E1073K,C2307S
Our disease-specific predictions are still experimental; therefore, we have not defined clear prediction thresholds for identifying whether a mutation is associated with your disease of interest or not. However, predictions scoring less than zero indicate that there is a chance the mutation is associated with your disease of interest, with lower scores indicating increased confidence in the association.