Table 2 Bioinformatic tools and databases developed by the Centers for Mendelian Genomics
FunctionNameDescriptionInterface for Fly ResearchersReferences
Variant identificationHMZDelFinderIdentification of homozygous and hemizygous deletions from exome variant dataGambin et al. (2017)
Variant identificationDNMfinderIdentification of de novo variants from trio-WES dataEldomery et al. (2017)
Phenotype database/analysisPhenoDB https://www.mendeliangenomics.org/Searchable database of clinical phenotypes for individuals and their relatives, phenotypes reported by expert cliniciansRapid identification of patients with phenotypes of potential interest for further studyHamosh et al. (2013), Sobreira et al. (2015a)
Phenotype database/analysisOMIMExplorer https://omimexplorer.research.bcm.edu/Prioritization of exome variants based on clinical phenotype dataJames et al. (2016)
Phenotype database/analysisGeno2MP http://geno2mp.gs.washington.edu/Geno2MPSearchable database of genotype and phenotype dataGene and variant-based searching allows identification of related human phenotypesChong et al. (2016a)
Gene and/or phenotype matchingGeneMatcher https://genematcher.org/Identification of collaborators studying the same gene and/or phenotype, functions as a MME nodeIdentification of physicians and/or scientists who may have study patients with a relevant genotype or phenotypeSobreira et al. (2015a,b)
Gene and/or phenotype matchingMyGene2 http://www.mygene2.org/Phenotype and genotype database that includes patient-entered data, supports data matching, functions as a MME nodeIdentification of physicians and/or scientists who may have study patients with a relevant genotype or phenotypeChong et al. (2016b)