A major goal in the study of human diseases is to assign functions to genes or genetic variants. The model organism Caenorhabditis elegans provides a powerful tool because homologs of many human genes are identifiable, and large collections of geneti...
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been ava...
Genetics and molecular research : GMR
Jun 18, 2015
The objective of this study was to evaluate the efficiency of artificial neural networks (ANNs) for predicting genetic value in experiments carried out in randomized blocks. Sixteen scenarios were simulated with different values of heritability (10, ...
BMC medical informatics and decision making
Jun 15, 2015
BACKGROUND: Phenotypic information locked away in unstructured narrative text presents significant barriers to information accessibility, both for clinical practitioners and for computerised applications used for clinical research purposes. Text mini...
BACKGROUND: People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is kn...
The reality of larger and larger molecular databases and the need to integrate data scalably have presented a major challenge for the use of phenotypic data. Morphology is currently primarily described in discrete publications, entrenched in noncompu...
Roots play an immediate role as the interface for water acquisition. To improve sustainability in low-water environments, breeders of major crops must therefore pay closer attention to advantageous root phenotypes; however, the complexity of root arc...
We present a robot that enables high-content studies of alert adult Drosophila by combining operations including gentle picking; translations and rotations; characterizations of fly phenotypes and behaviors; microdissection; or release. To illustrate...
Electronic medical records are emerging as a major source of data for clinical and translational research studies, although phenotypes of interest need to be accurately defined first. This article provides an overview of how to develop a phenotype al...
OBJECTIVE: Data in electronic health records (EHRs) is being increasingly leveraged for secondary uses, ranging from biomedical association studies to comparative effectiveness. To perform studies at scale and transfer knowledge from one institution ...
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