Tools

The eMERGE Network aims to share best practices, expertise and experiences within and outside of the consortium, as well as disseminate association findings, tools and best practices to the scientific community at large. Below, you will find a subset of education and informatics-based tools, as well as templates & formats generated and implemented Network-wide. These tools are publicly available and shareable with other institutions or consortia.

Informatics Tools Button Educational Tools Button
CDSKB | Catalogs and shares clinical decision support implementation artifacts and designs consideration for genomic medicine programs

eleMAP | Harmonizes local phenotype data dictionaries to existing metadata and terminology standards

eRecordCounter | Provides exploratory data figures for research planning purposes and feasibility assessment

PheKB | Offers a collaborative environment to build and validate electronic algorithms to identify characteristics of patients within health data

PheWAS Catalog | Functions as a platform for analysis of phenotypes against a single gene variant

SPHINX | Operates as a tool for exploring data for hypothesis generation, especially around drug response implications of genetic variation across the eMERGE PGx cohort

IMAGene | Helps you learn about genomic screening to determine which genetic tests are best

Learning Genetics | Presents introductory videos about components of genetics

MyResults.org | Provides information about genetic test results and disease risks

Lectures & Videos | Seminars covering precision medicine, large genomics data, and up and coming tools

Templates and Formats Button Additional Tools Button
Clinical Report File Formats | Lists clinical reports and research materials (e.g. consent forms)

eMERGE Model Consent Language  | Offers a compilation of consent language for the collection and storage of human biospecimens and data for future research

Infobutton Project Template  | Acts as a decision support tool to provide context-specific links within the electronic health record to relevant genomic medicine content

Genotyping Tools | PennCNV, Biofilter, Biobin, PLATO, ATHENA, Synthesis-View, PheWAS-View, and Phenogram

Phenotyping Tools | PheKB, eleMAP, and PheWAS

CDS Tools | Infobutton and ANNOVAR

Natural Language Processing (NLP) Tools  | Infobutton and ANNOVAR

In the News

Here's what's happening with eMerge:

20
JUL

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...

14
MAY

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 

23
APR

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07
MAR

Please find below a special note from the NHGRI Director, Eric Green. ******************************************************************** Dear NHGRI Grantee: In order to capitalize on the opportunities...