Variome


The variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change. For example, among humans, about 1 in every 1,200 nucleotide bases 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, indels, and structural variation of a population or species. seeks to compile this genetic variation data worldwide. Variomics is the study of variome and a branch of bioinformatics.

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.

Etymology

The blend word 'variome' is from genetic variant and the suffix –ome. ‘Variomics’ was first coined by Professor Richard ‘Dick’ Cotton in 2002 to describe. ‘Variome’ has since been most commonly used in reference to the ‘’ 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 and the Human Variome Project. 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.