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Figure 1 | BioData Mining

Figure 1

From: An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation

Figure 1

Flow diagram for AACDS classification algorithm. Upon receiving a list of homozygous rare mis-sense variants, the nsSNPs were mapped to the corresponding amino acid residue within a reference protein (identified with UniProt accession number). We use an SQL server to hold SNP-related information from several resources: deleterious predictions (from dbSNFP database [10]), known diseases associations of each variant and known disease/trait associations of each gene (from MSV3d [14], SwissVar [15], and GWAS databases [17]). The AACDS classification algorithm extracts relevant fields from the AACDS database to populate the report on the variant category (categories 1–6). The output (Additional file 1: Figure S1) is converted from an SQL data table to the user-defined formats (HTML, text), and is available for download, or individual queries can be supported on our server at http://aacds.cig.biology.gatech.edu/?q=tools.

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BioData Mining

ISSN: 1756-0381