Learn to use Genetics Home Reference , or GHR, an extensive collection of data that describe the effects of genetic variability on human health and disease. Everyone from the general public to the experienced researcher can explore the genetic topics covered because GHR is written in lay language and navigation between pages is simple. Summary pages describe hundreds of human genetic diseases, conditions and syndromes, the genes thought to be responsible for them, and all of the human chromosomes. GHR provides many additional resources and tools such as a handbook, search tips, a glossary and links, which allow you to find both more general and more specific information.

You will learn:

  • how to search by genetic disease, condition, or syndrome, gene or chromosome
  • to access more general or more specific information on genetic conditions, genes or chromosomes
  • to browse GHR and explore its resources like the genetic handbook and glossary
  • methods to stay current in the latest developments in genetics


This tutorial is a part of the tutorial group Human variations. You might find the other tutorials in the group interesting:

GAD: Genetic Association Database: An archived database associating human genes and polymorphisms with diseases

Madeline 2.0: Human pedigree diagram tools

DrugBank: A chemoinformatics and bioinformatics resource

DGV: Database of Genomic Variants: Database of Genomic Variants, DGV, catalogs and displays structural variation in the human genome

OMIM: Online Mendelian Inheritance in Man (OMIM): A database of human genes, genetic diseases and disorders

CGAP: Characterize the molecular genetic changes that cause a normal cell to become a cancer cell

ENCODE Foundations: ENCyclopedia of DNA Elements

GeneSNPs: An integrated view of gene structure and SNP variations

NIEHS SNPs: National Institute for Environmental Health Sciences Environmental Genome Project (EGP) SNPs

HapMap: HapMap, a database and analysis resource of human variation

dbGaP: A database of genotypes and phenotypes with extensive variation data and clinical details

SeattleSNPs: Human SNPs in genes

dbSNP: NCBI's SNP database

GeneTests: GeneTests, a current, comprehensive genetic testing resource


Variation & Medical : Resources that include information about sequence variation, phenotypes, or medically-relevant conditions.


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Mei Yan et al., For robust big data analyses: a collection of 150 important pro-metastatic genes. Chinese Journal of Cancer (2017) doi:10.1186/s40880-016-0178-z

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