The Genomic Resources Search interface supports clinical genomics information needs by aiding the search for answers to genomics questions. By entering a disorder, a medication or a gene name, the user can search available ClinGen resources and many of the content resources listed on the page. A context-sensitive link for each relevant resource will be returned on the page, allowing the user to choose the resource that has most relevance to the question. Resources can be viewed on the page or in separate tabs.

The search interface and specific resources can be independently integrated with electronic health record (EHR) systems via the HL7 infobutton standard, therefore facilitating access to these resources in the context of patient care. The search interface was built using OpenInfobutton (openinfobutton.org), an open source reference implementation of the HL7 Infobutton standard.

All Resources

American Society of Human Genetics - Patient Information
American Society of Human Genetics - Patient Information
Enhance genetics education by preparing future professionals and informing the public.
ClinVar
ClinVar
A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence.
Cancer Genetics Overview (PDQ®)
Cancer Genetics Overview (PDQ®)
Provides a number of resources for patients and consumers about cancer and genetics.
CDC Public Health Genomics
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
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.
dbGaP
dbGaP Registration Required
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
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
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
GARD - Get Involved In Research
Learn more about how to find and participate in a research study, clinical trial, or patient registry.
GeneReviews
GeneReviews
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.
GeneTests
GeneTests
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
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)
Genetic/Genomic Competency Center (g-2-c-2)
A searchable repository of peer-reviewed genetic and genomic resources.
Genetic Practice Guidelines
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
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
Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.
GenomeConnect
GenomeConnect Registration Required
GenomeConnect is a patient portal, or registry, that is working to build the knowledge base about genetics and health that will allow researchers and doctors to study the impact of genetic variation on health conditions. This knowledge is key to the development of new treatments and therapies.
Human Genetic Mutation Database
Human Genetic Mutation Database Registration Required Fee
HGMD®  is a resource for comprehensive data on published human inherited disease mutations.
Human Phenotype Ontology
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.
National Human Genome Research Institute (NHGRI)
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
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
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)
Online Medelian Inheritance in Man (OMIM)
An Online Catalog of Human Genes and Genetic Disorders
OrphaNet
OrphaNet
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.
UCSC Genome Browser
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.
Unique
Unique
Proving information to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.
1000 Genomes
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.
Undiagnosed Diseases Network
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.