Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

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

Abstract The Zebrafish Information Network (zfin. org) is the central repository for Danio rerio
genetic and genomic data. The Zebrafish Information Network has served the zebrafish …

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 …

Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …

Abstract The Human Phenotype Ontology (HPO) project, available at http://www. human-
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …

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 …