AIMC Topic: Molecular Sequence Annotation

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Deep learning meets ontologies: experiments to anchor the cardiovascular disease ontology in the biomedical literature.

Journal of biomedical semantics
BACKGROUND: Automatic identification of term variants or acceptable alternative free-text terms for gene and protein names from the millions of biomedical publications is a challenging task. Ontologies, such as the Cardiovascular Disease Ontology (CV...

SSDOnt: An Ontology for Representing Single-Subject Design Studies.

Methods of information in medicine
BACKGROUND: Single-Subject Design is used in several areas such as education and biomedicine. However, no suited formal vocabulary exists for annotating the detailed configuration and the results of this type of research studies with the appropriate ...

Interpretation of biological experiments changes with evolution of the Gene Ontology and its annotations.

Scientific reports
Gene Ontology (GO) enrichment analysis is ubiquitously used for interpreting high throughput molecular data and generating hypotheses about underlying biological phenomena of experiments. However, the two building blocks of this analysis - the ontolo...

Improving the measurement of semantic similarity by combining gene ontology and co-functional network: a random walk based approach.

BMC systems biology
BACKGROUND: Gene Ontology (GO) is one of the most popular bioinformatics resources. In the past decade, Gene Ontology-based gene semantic similarity has been effectively used to model gene-to-gene interactions in multiple research areas. However, mos...

Disease Ontology: improving and unifying disease annotations across species.

Disease models & mechanisms
Model organisms are vital to uncovering the mechanisms of human disease and developing new therapeutic tools. Researchers collecting and integrating relevant model organism and/or human data often apply disparate terminologies (vocabularies and ontol...

Exploring autophagy with Gene Ontology.

Autophagy
Autophagy is a fundamental cellular process that is well conserved among eukaryotes. It is one of the strategies that cells use to catabolize substances in a controlled way. Autophagy is used for recycling cellular components, responding to cellular ...

Multi-label Deep Learning for Gene Function Annotation in Cancer Pathways.

Scientific reports
The war on cancer is progressing globally but slowly as researchers around the world continue to seek and discover more innovative and effective ways of curing this catastrophic disease. Organizing biological information, representing it, and making ...

AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder.

Database : the journal of biological databases and curation
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic contributions. To provide a comprehensive resource for the genetic evidence of ASD, we have updated the Autism KnowledgeBase (AutismKB) to version 2.0. Autism...

Wide-scope biomedical named entity recognition and normalization with CRFs, fuzzy matching and character level modeling.

Database : the journal of biological databases and curation
We present a system for automatically identifying a multitude of biomedical entities from the literature. This work is based on our previous efforts in the BioCreative VI: Interactive Bio-ID Assignment shared task in which our system demonstrated sta...

PlaNC-TE: a comprehensive knowledgebase of non-coding RNAs and transposable elements in plants.

Database : the journal of biological databases and curation
Transposable elements (TEs) play an essential role in the genetic variability of eukaryotic species. In plants, they may comprise up to 90% of the total genome. Non-coding RNAs (ncRNAs) are known to control gene expression and regulation. Although th...