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dc.contributor.authorWall, Dennis Paul Paul
dc.contributor.authorPivovarov, Rimma
dc.contributor.authorTong, Mark
dc.contributor.authorJung, Jae-Yoon
dc.contributor.authorFusaro, Vincent Alfred
dc.contributor.authorDeLuca, Todd
dc.contributor.authorTonellato, Peter J
dc.date.accessioned2011-11-01T14:33:29Z
dc.date.issued2010
dc.identifier.citationWall, Dennis P, Rimma Pivovarov, Mark Tong, Jae-Yoon Jung, Vincent A Fusaro, Todd F DeLuca, and Peter J Tonellato. 2010. Genotator: A disease-agnostic tool for genetic annotation of disease. BMC Medical Genomics 3: 50.en_US
dc.identifier.issn1755-8794en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:5333508
dc.description.abstractBackground: Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. Methods: We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called 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 tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Results: Genotator 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. Conclusions: As a meta-query engine, Genotator 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. Genotator's algorithm appropriately transforms query terms to match the input requirements of each targeted databases and accurately resolves named synonyms to ensure full coverage of the genetic results with official nomenclature. Genotator generates an excel-style output that is consistent across disease queries and readily importable to other applications.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi://10.1186/1755-8794-3-50en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2990725/pdf/en_US
dash.licenseLAA
dc.titleGenotator: A Disease-Agnostic Tool for Genetic Annotation of Diseaseen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBMC Medical Genomicsen_US
dash.depositing.authorTong, Mark
dc.date.available2011-11-01T14:33:29Z
dash.affiliation.otherHMS^Center for Biomedical Informatics at Countwayen_US
dash.affiliation.otherHMS^Pediatrics-Children's Hospitalen_US
dash.affiliation.otherHMS^Center for Biomedical Informatics at Countwayen_US
dc.identifier.doi10.1186/1755-8794-3-50*
dash.contributor.affiliatedTong, Mark
dash.contributor.affiliatedFusaro, Vincent Alfred
dash.contributor.affiliatedDeLuca, Todd
dash.contributor.affiliatedJung, Jae-Yoon
dash.contributor.affiliatedWall, Dennis Paul
dash.contributor.affiliatedTonellato, Peter


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