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Deep phenotyping
Next Generation Sequencing has lead to a rapid expansion of the pathogenic genetic human 'atlas'. The rapidly increasing group of rare genetic disorders demands an intelligible use of the available data, to acquire novel insights into the pathophysiology.
Deep Phenotyping is a comprehensive analysis based on the principle that clinical similarities are indicative of a shared underlying pathopysiology. This technique allows researchers to extrapolate pathophysiological insights from well-known diseases to rare disorders, rendering increased insight in underlying pathophysiology of rare disorders. However, there is no consensus on the best deep phenotyping strategy yet.
One major advantage of this technique is that it utilizes information that is already available: phenotypes. These phenotypic descriptions can be extracted from case studies, to combat the data scarcity. Hence, we build a HPO-extraction tool to facilitate deep phenotyping studies.
The hypothesis that similarities in phenotypes suggest a shared pathophysiology was explored in a paper by Haijes et al. in 2020. Ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383723/
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