Phenotyping Tools

One of the missions of the eMERGE Network is to share resulting best practices, expertise, and experience within and outside eMERGE and disseminate association findings, tools and best practices to the scientific community. You will find additional resources related to our phenotyping tools.



The Phenotype Knowledgebase website, PheKB, is a collaborative environment to building and validating electronic phenotype algorithms. The PheKB has both a public component that allows you to view existing phenotypes and implementations, and a collaborative component that allows you to submit phenotypes, provide detail about implementations of a phenotype or add to existing phenotypes. For the collaborative component, you will need to register with the site.

PheKB Presentation (PPT)



eleMAP is a dynamic, free tool that helps researchers harmonize their phenotype data and data dictionaries to existing metadata and terminology standards. eleMAP also houses a downloadable library of harmonized metadata from a varity of existing phenotype studies.

eleMAP Poster (PPT)

eleMAP Tutorial (PDF)

eleMAP Tutorial Video



Phenome-wide association studies (PheWAS) analyze many phenotypes compared to a single genetic variant (or other attribute). This method was originally described using electronic medical record (EMR) data from EMR-linked in the Vanderbilt DNA biobank, BioVU, but can also be applied to other richly phenotyped sets.  Download PheWAS code translation table and Perl CodeDownload PheWAS R package.   Synthesis-View, PheWAS-View and Phenogram provides visualization tools for genome and phenome-wide data. These tools are also offered via a web interface at



The eMERGE sites have translated their eMERGE cohorts into the OMOP Common Data Model, v5.2.

In the News

Here's what's happening with eMerge:


eMERGE Network is excited to share that Taryn Hall's project, Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling; was published in Genes...


eMERGE Network is excited to share that Dr. Douglas Pet's project, Physicians Raise Concerns on Receiving Unsolicited Genomic Results; was published in Genetics in Medicine. The publication...


CDC's new blog post: Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world? Posted on May 8, 2018 by