AIMC Topic: Exome

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Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.

Current protocols in human genetics Sep 1, 2019
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...
Humans Software Phenotype Computational Biology Databases, Genetic Diagnosis, Differential Whole Genome Sequencing Biological Ontologies Genetic Diseases, Inborn Exome
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A machine learning approach for somatic mutation discovery.

Science translational medicine Sep 5, 2018
Variability in the accuracy of somatic mutation detection may affect the discovery of alterations and the therapeutic management of cancer patients. To address this issue, we developed a somatic mutation discovery approach based on machine learning t...
Humans Machine Learning Software Neoplasms Immunotherapy Mutation High-Throughput Nucleotide Sequencing Exome Sequencing Exome
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Deep learning of genomic variation and regulatory network data.

Human molecular genetics May 1, 2018
The human genome is now investigated through high-throughput functional assays, and through the generation of population genomic data. These advances support the identification of functional genetic variants and the prediction of traits (e.g. deleter...
Humans Software Deep Learning Gene Regulatory Networks Genomics Sequence Analysis, DNA High-Throughput Nucleotide Sequencing Genome, Human Exome
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