Phenomics is the systematic study of phenotypes, physical and chemical characteristics that result from interactions between genes and environment, on a genome-wide scale. A phenome is a set of observable or measurable phenotypes. Phenomics is a multidisciplinary field involving fields such as genetics, systems biology and machine learning.
As DNA sequencingDNA sequencing became faster and cheaper, new knowledge about normal genetic variation in the human population allowed genetic variants once thought to cause disease to be reclassified as benign. The ranges and commonality of variations in human phenotypes if better understood could improve the accuracy and treatment of disease in genetic medicine. The Human Phenotype Ontology helps the sharing of phenotype data by standardising the vocabulary for phenotypes. For some types of phenotypic abnormalities, standardized measurements can be used to define the phenotype. To show a causal link between a genetic variant and an abnormal phenotype, it needs to be shown that the two are found together more often then expected by chance. Improvements in data about baseline population frequencies of phenotypes are needed for these calculations.
The introduction of genetic changes in animal model systems allow for unbiased interrogation of genotype-phenotype interactions. The Mouse Phenome Project was the first major effort in a vertebrate model to catalog baseline phenotypic data, which is housed at the Mouse Phenome Database at the Jackson LaboratoryJackson Laboratory, Bar Harbor, ME. The Knockout Mouse Project is a National Institutes of Health (NIH) initiative which aims to generate a resource containing loss of function mutations for every gene in the mouse genome correlated with phenotypic data.