OrthoDisease: A Database of Human Disease Orthologs Release 2.0, March 2011 1. Introduction InParanoid is a program for automatic identification of orthologs while differentiating between inparalogs and outparalogs. An InParanoid cluster is seeded by a reciprocally bestmatching ortholog pair, around which inparalogs are gathered independently, while outparalogs are excluded. The InParanoid database is a collection of pairwise ortholog groups aiming to include all 'completely sequenced' eukaryotic genomes. By this we mean above 6X coverage, and less than 1% X letters in the protein sequences. 2. Online access The OrthoDisease disease ortholog database is available both for direct online access as well as for downloading. Online the user has the option to view all clusters between two species, search for clusters based on gene ID or free text search. Online access is available at: http://orthodisease.sbc.su.se/. 3. Downloadable content The current database is available for download at: http://orthodisease.sbc.su.se/download The files are stripped-down versions of the Inparanoid tables containing InParanoid clusters with disease-association, only. Note that only those protein ID have additional disease information that can be found in the OMIM database. Thats why no non-human protein ID has a disease annotation. The columns of the table files are tab-separated and contain the following information: -cluster number -bit score -species name -inparalog score -Ensembl protein ID -boostrap confidence value -OMIM ID -OMIM description -OMIM class Analysed sequences: Both the original and the processed (i.e. non-redundant, keeping only the longest transcript) sequences used for analysis can be downloaded either as fasta files or in XML format from http://inparanoid.sbc.su.se/download/7.0_current/. 4. Citing OrthoDisease "OrthoDisease: Tracking disease gene orthologs across 100 species" Kristoffer Forslund*, Fabian Schreiber*, Nattaphon Thanintorn, Erik L.L. Sonnhammer Briefings in Bioinformatics (submitted), 2011