These data highlight the challenges of clinical phenotyping and the unknown phenotypic spectrum of many genetic disorders, as has been reported in other studies [Dixon-Salazar et al., 2012].
Mutant lines undergo a standardized battery of clinical phenotyping tests encompassing a range of biomedical characteristics in order to assess the phenotypic consequence of the targeted allele, thereby generating biologically relevant, functional annotation of genes (Kim et al., 2010; Brown and Moore, 2012).
Deep clinical phenotyping is performed to characterize newly identified disease entities.
One possibility is grouping based on a number of components, including clinical phenotyping in combination with immunological and epigenetic markers.
This index provides a tool for clinical phenotyping and assessment of therapeutic response for many disorders of keratinization.
This principle can be applied in family members of patients with DCM, where genetic testing and clinical phenotyping are indicated.
A main problem of clinical phenotyping is that the definition is often biased, as mostly only the most dominant disease feature is used for classification [5].
Clinical phenotyping and correlation with genome-wide analysis aid the search for genetic mutations predisposing one to a specific disease by "aggregating subjects into groups with higher probabilities of having common genotypes" [13].
Exome sequencing approaches, together with deep clinical phenotyping and functional testing in cell and animal model systems, allow unraveling the genetic cause of previously undetermined pediatric ALF, including the identification of new genetic diseases.
Irrespective the great strides being made in biomarker identification, there are as yet unmet needs in developing standards and guidelines that define toxicology, clinical phenotyping,, dosage decision making, treatment attrition decisions, and patient stratification.
The primary outcome was development of ALI/ARDS in the first four days of admission to the ICU, which was the time frame for intensive clinical phenotyping for ALI/ARDS in the VALID study.
