Resource Library

eMERGE Resource Library

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. Click on each button to learn more.

Informatics Tools ButtonEducational Tools Button 
CDSKB | Catalogs and shares clinical decision support implementation artifacts and designs consideration for genomic medicine programs
DocUBuild | DocUBuild is a web application for creating and sharing documents that can be accessed electronically from Electronic Health Record (EHR) systems.
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
Learning Genetics | Presents introductory videos about components of genetics
Lectures & Videos | Seminars covering precision medicine, large genomics data, and up and coming tools
Templates and Formats 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 from Phase I, Phase II, and Phase III
Infobutton Project Template | Acts as a decision support tool to provide context-specific links within the electronic health record to relevant genomic medicine content
eMERGE III FHIR Template | The eMERGE Phase III specification detailing the design for generating structured genetic test lab results using HL7 FHIR Genomics Reporting Implementation Guidelines

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
dbGaP Studies | List of data available in dbGaP
eMERGE Zotero library | eMERGE related publications

eMERGE Past Meeting Materials | Publicly available eMERGE past meeting materials