title: The digital revolution in phenotyping.
abstract: Phenotypes have gained increased notoriety in the clinical and biological domain owing to their application in numerous areas such as the discovery of disease genes and drug targets, phylogenetics and pharmacogenomics. Phenotypes, defined as observable characteristics of organisms, can be seen as one of the bridges that lead to a translation of experimental findings into clinical applications and thereby support 'bench to bedside' efforts. However, to build this translational bridge, a common and universal understanding of phenotypes is required that goes beyond domain-specific definitions. To achieve this ambitious goal, a digital revolution is ongoing that enables the encoding of data in computer-readable formats and the data storage in specialized repositories, ready for integration, enabling translational research. While phenome research is an ongoing endeavor, the true potential hidden in the currently available data still needs to be unlocked, offering exciting opportunities for the forthcoming years. Here, we provide insights into the state-of-the-art in digital phenotyping, by means of representing, acquiring and analyzing phenotype data. In addition, we provide visions of this field for future research work that could enable better applications of phenotype data.
authors.forename: Anika
authors.initials: A
authors.lastname: Oellrich
authors.forename: Nigel
authors.initials: N
authors.lastname: Collier
authors.forename: Tudor
authors.initials: T
authors.lastname: Groza
authors.forename: Dietrich
authors.initials: D
authors.lastname: Rebholz-Schuhmann
authors.forename: Nigam
authors.initials: N
authors.lastname: Shah
authors.forename: Olivier
authors.initials: O
authors.lastname: Bodenreider
authors.forename: Mary Regina
authors.initials: MR
authors.lastname: Boland
authors.forename: Ivo
authors.initials: I
authors.lastname: Georgiev
authors.forename: Hongfang
authors.initials: H
authors.lastname: Liu
authors.forename: Kevin
authors.initials: K
authors.lastname: Livingston
authors.forename: Augustin
authors.initials: A
authors.lastname: Luna
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Mallon
authors.forename: Prashanti
authors.initials: P
authors.lastname: Manda
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
authors.forename: Gabriella
authors.initials: G
authors.lastname: Rustici
authors.forename: Michelle
authors.initials: M
authors.lastname: Simon
authors.forename: Liqin
authors.initials: L
authors.lastname: Wang
authors.forename: Rainer
authors.initials: R
authors.lastname: Winnenburg
authors.forename: Michel
authors.initials: M
authors.lastname: Dumontier
mesh_terms: D006801:Humans; D016247:Information Storage and Retrieval; D010641:Phenotype; D012107:Research Design; D057170:Translational Research, Biomedical
keywords: acquisition; interoperability; knowledge discovery; phenomics; phenotypes; semantic representation