Capturing phenotypes for precision medicine
- 1Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany;
- 2Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;
- 3Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany;
- 4Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany;
- 5Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA;
- 6Oregon Health and Science University, Portland, Oregon 97239, USA
- Corresponding author: peter.robinson{at}charite.de
Abstract
Deep phenotyping followed by integrated computational analysis of genotype and phenotype is becoming ever more important for many areas of genomic diagnostics and translational research. The overwhelming majority of clinical descriptions in the medical literature are available only as natural language text, meaning that searching, analysis, and integration of medically relevant information in databases such as PubMed is challenging. The new journal Cold Spring Harbor Molecular Case Studies will require authors to select Human Phenotype Ontology terms for research papers that will be displayed alongside the manuscript, thereby providing a foundation for ontology-based indexing and searching of articles that contain descriptions of phenotypic abnormalities—an important step toward improving the ability of researchers and clinicians to get biomedical information that is critical for clinical care or translational research.
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