The variome is the whole set of

genetic variation Genetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources ...

s found in populations of

species A species () is often defined as the largest group of organisms in which any two individuals of the appropriate sexes or mating types can produce fertile offspring, typically by sexual reproduction. It is the basic unit of Taxonomy (biology), ...

that have gone through a relatively short

evolution Evolution is the change in the heritable Phenotypic trait, characteristics of biological populations over successive generations. It occurs when evolutionary processes such as natural selection and genetic drift act on genetic variation, re ...

change. For example, among humans, about 1 in every 1,200

nucleotide base Nucleotide bases (also nucleobases, nitrogenous bases) are nitrogen-containing biological compounds that form nucleosides, which, in turn, are components of nucleotides, with all of these monomers constituting the basic building blocks of nuc ...

s differ. The size of human variome in terms of effective population size is claimed to be about 10,000 individuals. This variation rate is comparatively small compared to other species. For example, the effective population size of tigers which perhaps has the whole population size less than 10,000 in the wild is not much smaller than the human species indicating a much higher level of genetic diversity although they are close to extinction in the wild. In practice, the variome can be the sum of the

single nucleotide polymorphisms In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in ...

(SNPs), indels, and structural variation (SV) of a population or species
The Human Variome Project
seeks to compile this genetic variation data worldwide. Variomics is the study of variome and a branch of

bioinformatics Bioinformatics () is an interdisciplinary field of science that develops methods and Bioinformatics software, software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, ...

Ethnic variomes

The human variome can be subdivided into smaller ethnicity specific variomes. Each variome can have a utility in terms of filtering out common ethnic specific variants in the analyses of cancer normal variants filtering for more efficient detection of somatic mutations that can be relevant to certain anti-cancer drugs. KoVariome is one such ethnic specific variome where the project uses the term variome to denote their identity and connection to the concept of the broader human variome. KoVariome founders have been affiliated with HVP since early days of HVP where Prof. Richard Cotton initiated various efforts to compile the human variome resources. Many curated databases has been established to document the impact of clinically significant sequence variations, such as dbSNP or ClinVar. Similarly, many services have been developed by the bioinformatics community to search the literature for variants. ‌

Etymology

The blend word 'variome' is from genetic variant (“a version of a gene that differs from other versions of the same gene which may or may not have an effect on human health”) and the suffix –ome (“the complete whole of a class of substances for a species or an individual”). ‘Variomics’ (which appeared in the literature before ‘variome’) was first coined by Professor Richard ‘Dick’ Cotton in 2002 to describe (“The systematic study of the effect of genetic variation on human health”). ‘Variome’ has since been most commonly used in reference to the �
Human Variome Project
�� founded four years in 2006 after ‘variomics’ was first coined.

Projects

There are a number of international project studying the human variome, including the

International HapMap Project The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease ...

and the

Human Variome Project The Human Variome Project (HVP) is the global initiative to collect and curate all human genetic variation affecting human health. Its mission is to improve health outcomes by facilitating the unification of data on human genetic variation and it ...

(HVP). The HapMap Project aims to identify and catalog genetic similarities and differences among humans. The HVP aims to collect data on all human genetic variation. The Korean Genome Project, which aims to collect all the East Asian ethnic Korean genetic variations has produced KoVariome that contains currently over 1,000 Korean whole genome variation information. Turkish Genome Project has plans to analyze genomes of 100,000 people in

Turkey Turkey, officially the Republic of Türkiye, is a country mainly located in Anatolia in West Asia, with a relatively small part called East Thrace in Southeast Europe. It borders the Black Sea to the north; Georgia (country), Georgia, Armen ...

Notes

References

Variome.net
Variome information portal site.
Human Variome Project

"Human Variome Project Set to Launch"
May 12, 2006

* {{cite journal , vauthors = Ring H, Kwok P, Cotton R , title = Human Variome Project: an international collaboration to catalogue human genetic variation. , journal = Pharmacogenomics , volume = 7 , issue = 7 , pages = 969–72 , year = 2006 , pmid = 17054407 , doi = 10.2217/14622416.7.7.969

External links