User:Rowantoinette/sandbox

In order to categorize a mutation as such, the "normal" sequence must be obtained from the DNA of a "normal" or "healthy" organism (as opposed to a "mutant" or "sick" one), it should be identified and reported; ideally, it should be made publicly available for a straightforward nucleotide-by-nucleotide comparison, and agreed upon by the scientific community or by a group of expert geneticists and biologists, who have the responsibility of establishing the standard or so-called "consensus" sequence. This step requires a tremendous scientific effort. Once the consensus sequence is known, the mutations in a genome can be pinpointed, described, and classified. The committee of the Human Genome Variation Society (HGVS) has developed the standard human sequence variant nomenclature,[82] which should be used by researchers and DNA diagnostic centers to generate unambiguous mutation descriptions. In principle, this nomenclature can also be used to describe mutations in other organisms. The nomenclature specifies the type of mutation and base or amino acid changes.

Mutation nomenclature assists in specifying the type of mutation in a genome, as well as base or amino acid changes. In order for a mutation to be recognized and classified, the basal DNA sequence of the healthy organism must be known and reported. Once identified, it must be agreed upon by extensive numbers of the scientific community, or groups of expert geneticists and scientists, in order to be classified as the "consensus sequence", or the standard Wild Type DNA sequence. Once the consensus sequence has been identified, the strands can be compared and mutations in the genome can be located and identified. Researchers and DNA diagnostic centers use the nomenclature system proposed by the the committee of the Human genome Variation Society (HGVS)[82], as a way to classify variant human genome sequences. This system helps scientists create unambiguous mutation descriptions, and therefore can be used in theory to describe the mutations of other organisms.