Fig. 1.

Flowchart overview of algorithm used in GESPA. a Input, output and retrieval of the data from available resources. Left cells show acceptable inputs including a HUGO symbol or a batch file which contains multiple genes and nsSNPs of interest. The middle cells represent resources used to obtain required information. Genes with data already saved on custom SQL-based server cloud are downloaded instantly, circumventing slower retrieval from databases. The right cells represent output obtained from each resource. b Steps involved in nsSNP pathogenicity and phenotype prediction algorithm. The steps described in the methods section are listed in the middle table which will determine the pathogenicity and phenotype of the given nsSNP. The results are available in the table format