Genotator

Overview

This is our original gene-disorder association project. It collects known genetic predispositions from external databases then rank associations by their confidence level and the number of supporting repositories. Genotator is a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. It provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked data that remains current with the pace of research in the disease fields.

Specific Aims

We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Genotator automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance.We demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease.

Paper

Wall DP, Pivovarov R, Tong M, Jung JY, Fusaro VA, DeLuca TF, Tonellato PJ. Genotator: a disease-agnostic tool for genetic annotation of disease. BMC Med Genomics. 2010