Human genetic mutation and phenotypes have been well curated in the Online Mendelian Inheritance in Man (OMIM) database [ 9] and have been used to evaluate phenotype similarities between different gene perturbations [ 10].
Genome-scale metabolic models (GEMs) can be used to evaluate genotype-phenotype relationships and their application to microbial strain engineering is increasing in popularity.
In these experiments, mammary primordia from E12.5 onwards formed extensive arborised ducts and have been used to evaluate postnatal mammary phenotypes in mice with genetic mutations which exhibit embryonic lethal phenotypes [ 3].
A high density collagen type I coated substrate (CL substrate) was used to evaluate the chondrocyte phenotypes in passaged cultures.
These human proteins were expressed in Rat1a fibroblasts, because this cell background has been routinely used to evaluate numerous Myc phenotypes, including anchorage-independent transformation and in vivo tumorigenesis [14], [15], [30], [31].
Diminished PGC-1α function appears to be a major contributor to HD pathogenesis [ 10], so the HD-iPSC model could be used to evaluate the mitochondrial phenotypes seen in HD mice, including decreased mitochondrial complex activities, decreased mitochondrial number, and increased oxidative stress.
In another study, a set of 100 molecular biology articles was annotated with phenotypic information in a semi-supervised manner, and then used to evaluate a hybrid phenotype extraction approach based on dictionary and ML techniques [ 35].
Three or four colour flow cytometry (FACS) was used to evaluate DC numbers, phenotype, antigen uptake and cytokine secretion.
The copy numbers of SMN2 and NAIP were used to evaluate the clinical phenotype of SMA patients [ 25, 26].
Root length was measured before and after treatment, and calculated root elongation was used to evaluate the short root phenotype of each individual in comparison with their parents.
