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URL: https://phenodb.org/
Proper Citation: PhenoDB (RRID:SCR_016551)
Description: Database for phenotype genotype associations for humans. Used by clinical researchers to store standardized phenotypic information, diagnosis, and pedigree data and then run analyses on VCF files from individuals, families or cohorts with suspected Mendelian disease.
Resource Type: database, data or information resource
Defining Citation: PMID:25684268
Keywords: store, standardized, phenotype, genotype, Mendelian disease, mutation, next, generation, sequencing, data
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Johns Hopkins University School of Medicine; Baltimore, Maryland; USA |
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Source: SciCrunch Registry
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