MOTIVATION: Whole-exome sequencing (WES) is now being used in clinical practice for the diagnosis of the causal genes of Mendelian diseases. In order to make the diagnosis, however, the clinical phenotypes [e.g. Human Phenotype Ontology (HPO) terms] ...
Zhongguo yi liao qi xie za zhi = Chinese journal of medical instrumentation
Sep 30, 2019
Artificial intelligence, as the breakthrough of current information technology, is gaining importance and being applied in more and more industries. Research on the application of artificial intelligence to the medical field has gradually matured and...
ATAC-seq has been widely adopted to identify accessible chromatin regions across the genome. However, current data analysis still utilizes approaches initially designed for ChIP-seq or DNase-seq, without considering the transposase digested DNA fragm...
MOTIVATION: Drug discovery demands rapid quantification of compound-protein interaction (CPI). However, there is a lack of methods that can predict compound-protein affinity from sequences alone with high applicability, accuracy and interpretability.
MOTIVATION: Protein structure refinement aims to bring moderately accurate template-based protein models closer to the native state through conformational sampling. However, guiding the sampling towards the native state by effectively using restraint...
MOTIVATION: The growing number of annotated biological sequences available makes it possible to learn genotype-phenotype relationships from data with increasingly high accuracy. When large quantities of labeled samples are available for training a mo...
The Human Phenotype Ontology (HPO) is a standardized set of phenotypic terms that are organized in a hierarchical fashion. It is a widely used resource for capturing human disease phenotypes for computational analysis to support differential diagnost...
MOTIVATION: Functional imaging at single-neuron resolution offers a highly efficient tool for studying the functional connectomics in the brain. However, mainstream neuron-detection methods focus on either the morphologies or activities of neurons, w...
Studies in health technology and informatics
Aug 21, 2019
Many currently available Diagnostic Decision Support Systems (DDSS) are based on causal condition-symptom relations that exhibit certain shortcomings. Ada's new approach explores the capabilities of DDSS based on pathophysiology, describing a disease...
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