Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

Developing personalized diagnostic strategies and targeted treatments requires a deep
understanding of disease biology and the ability to dissect the relationship between …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Ontologies, Phenotypes, and Big Data Data-organizing methods have been in place for
centuries, but very large data sets have come into being relatively recently. The authors …

There are few better examples of the need for data sharing than in the rare disease
community, where patients, physicians, and researchers must search for “the needle in a …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Exomiser is an application that prioritizes genes and variants in next-generation sequencing
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …

The correlation of phenotypic outcomes with genetic variation and environmental factors is a
core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient …

Background Genetic disorders and congenital anomalies are the leading causes of infant
mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units …