Genome Informatics Resources

NCBI's portal to information related to Medical Genetics that organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution. Includes terms lists from multiple sources and organzies them into concept groupings and hierarchies. Links are also provided to information related to those concepts in the NIH Genetic Testing Registry (GTR), ClinVar, Gene, OMIM, PubMed, and other sources.

A plethora of data is currently being generated through the Human Genome Project and scores of smaller projects. NCBI's Web site serves an an integrated, one-stop, genomic information infrastructure for biomedical researchers from around the world so that they may use these data in their research efforts.

The database of Genotypes and Phenotypes (dbGaP) was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype. These studies include genome-wide associations (HWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

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

GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Reviews include information about clinical presentation, mode(s) of inheritance, gene(s) mutated, types of genetic testing available, clinical management, etc.

GeneCards is a searchable, integrated database of human genes that provides comprehensive, updated, and user-friendly information on all known and predicted human genes. Founded in 1997, it was developed and is maintained in the Crown Human Genome Center at the Weizmann Institute of Science in Israel. Its goal is to integrate the fragments of information scattered over a variety of specialized databases into a coherent picture.

The National Human Genome Research Institute (NHGRI) is a division of the National Institutes of Health. A portal for resources related to genetics and biotechnology.