Recent studies incorporated clinical phenotype data to increase the ability of identifying new disease-associated genes (Hwang et al., 2012; Lage et al., 2007; Li and Patra, 2010; Vanunu et al., 2010; Wu et al., 2008, 2009), assuming that similar disease phenotypes reflect overlapping genetic causes (Brunner and Van Driel, 2004; Houle et al., 2010; Oti et al., 2008, 2009).
We incorporated the published phenotype to help establish genotype-phenotype correlations and facilitate this process for those performing mutation analysis and/or interpreting results.
In the former, the index of activation was the generation of clonal neurospheres and, in the latter, it was the number of GS-positive cells that had incorporated BrdU (BrdU+GS+ phenotype).
The fourth wave of the DNHS interview incorporated PhenX Toolkit phenotype measures (Table 2) and targeted these 800 individuals.
Using a classification system developed for the NBDPS, which incorporated three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies [65], case women for the current study included those who carried fetuses with simple or association CHDs.
Computational models that incorporated stress dependence successfully predicted vascular phenotype.
Human population studies that have incorporated measures of metabolic genotype and phenotype tend to support the biochemical mechanisms inferred from experimental studies (6).
Here, we adopted Cole's criteria [31] and incorporated a broad spectrum of clinical phenotypes, making thus the occurrence of group misclassification unlikely.
As the sole presence of ipaH is not indicative of the invasive phenotype, our mPCR design, which incorporated three other virulence genes, could determine the invasiveness of Shigella strains in epidemiological studies.
The plasminogen activation system, necessary for clot degradation, and also involved in wound healing and inflammation, is one of such mechanisms incorporated by tumour cells for developing the metastatic phenotype (Andreasen et al, 1997).
