Improve care by including genomic resources in your EHR

EHR Working Group works to support access of genomic resources through the electronic health record by using e-resource/infobutton standards proposed in meaningful use. This resources provides information on how resources can be independently be integrated with electronic health record (EHR) systems by using OpenInfobutton (, an open source reference implementation of the HL7 Infobutton standard, therefore facilitating access to these resources in the context of patient care. 

ClinGen's website search illustrates how external resources can be included and provide visitors access to additional information. Click one of the sample queries below to see a list of external resources with links to pages within the resource containing information about the queried term. 


About OpenInfoButton

OpenInfobutton is an open source suite of Web services that enable infobutton capabilities within Electronic Health Record (EHR) systems. Infobuttons are context-sensitive links embedded in EHR systems. They use contextual information about the patient, user, clinical setting, and EHR task to anticipate clinicians' information needs and provide links to online clinical resources that may meet these information needs. The OpenInfobutton project is an initiative led by the United States Veterans Health Administration (VHA) and the University of Utah, and developed by an independent open source community. OpenInfobutton has been certified through a rigorous process conducted by the Open Source Electronic Health Record Alliance (OSEHRA) community. 

List of Genomic Resources

Navigate each genomic resources below and query each resource individually. 
1000 Genomes

An interactive graphical viewer that allows users to explore variant calls, genotype calls and supporting evidence (such as aligned sequence reads) that have been produced by the 1000 Genomes Project.

American Society of Human Genetics - Patient Information

Enhance genetics education by preparing future professionals and informing the public.

Cancer Genetics Overview (PDQ®)

Provides a number of resources for patients and consumers about cancer and genetics.

CDC Public Health Genomics

The CDC Office of Public Health Genomics provides timely and credible information for the effective and responsible translation of genomics research into population health benefits.

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines

The Clinical Pharmacogenetics Implementation Consortium (CPIC) was formed in late 2009, as a shared project between PharmGKB and the Pharmacogenomics Research Network. CPIC guidelines are peer-reviewed and published in a leading journal (in partnership with Clinical Pharmacology and Therapeutics) with simultaneous posting to PharmGKB with supplemental information/data and updates.


An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

Exome Aggregation Consortium

The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.

Exome Variant Server

The goal of the NHLBI GO Exome Sequencing Project (ESP) is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by pioneering the application of next-generation sequencing of the protein coding regions of the human genome across diverse, richly-phenotyped populations and to share these datasets and findings with the scientific community to extend and enrich the diagnosis, management and treatment of heart, lung and blood disorders.

GARD - Get Involved In Research

Learn more about how to find and participate in a research study, clinical trial, or patient registry.


GeneReviews are expert-authored, peer-reviewed disease descriptions presented in a standardized format and focused on clinically relevant, medically actionable information on the diagnosis, management and genetic counseling of patients and families with specific inherited conditions.


A medical genetics information resource. GeneTests has grown to reflect the advances in genetic testing capabilities and to address the needs of our ever widening user community.

Genetic Alliance

A dynamic network that serves as an open space for sharing valuable information and interventions for disease resources, creative tools, and innovative programs

Genetic/Genomic Competency Center (g-2-c-2)

A searchable repository of peer-reviewed genetic and genomic resources.

Genetic Practice Guidelines

As guidelines are identified that relate to a disorder, gene, or variation, staff at NCBI connect them to the appropriate records. This page provides an alphabetical list of the professional practice guidelines, position statements, and recommendations that have been identified.

Genetic Testing Registry

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The scope of GTR includes single gene tests for Mendelian disorders, somatic/cancer tests and pharmacogenetic tests including complex arrays, panels.

Genetics Home Reference

Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.

Human Genetic Mutation Database

HGMD® is a resource for comprehensive data on published human inherited disease mutations.

Human Phenotype Ontology

The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms and over 115,000 annotations to hereditary diseases.


IGNITE is an NIH-funded network dedicated to supporting the implementation of genomics in healthcare.

Matchmaker Exchange

Matchmaker Exchange provides a robust approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes.

National Human Genome Research Institute (NHGRI)

The National Human Genome Research Institute (NHGRI) is working towards a future when health care providers will use information about our individual genomes to better diagnose and treat disease.

National Human Genome Research Institute (NHGRI) - HealthProfessionals

The National Human Genome Research Institute (NHGRI) is working towards a future when health care providers will use information about our individual genomes to better diagnose and treat disease.

National Organization for Rare Disorders

The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is the leading voice of the rare disease community. We are a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. For more than 30 years, we have been committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

Online Medelian Inheritance in Man (OMIM)

An Online Catalog of Human Genes and Genetic Disorders


Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.


The PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships.

UCSC Genome Browser

The UCSC Genome Browser is a visualization tool for the human genome providing a view of its genes and chromosomal features. Results from GWAS studies, conservation between other species, and results from many genomic and epigenomic studies are also provided. The Browser also has similar genomic information for a large number of animal species.

Undiagnosed Diseases Network

The Undiagnosed Diseases Network (UDN) is an NIH-funded research study with the goal of providing answers for individuals with mysterious conditions that have long eluded diagnosis.


Proving information to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.