AIMC Topic: Knowledge Bases

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Increasing the Clinical Psychiatric Knowledge Base About Pathogenic Copy Number Variation.

The American journal of psychiatry
Specific copy number variants (CNVs) have been robustly associated with intellectual disability, autism, and schizophrenia. Most of the literature focus has been on documenting the existence of these phenomena. There are few data to guide therapeutic...

Evaluation of clinical impact of pharmacogenomics knowledge involved in CPIC guidelines on Chinese pediatric patients.

Pharmacogenomics
To evaluate the clinical benefits of implementing pharmacogenomics testing for Chinese pediatric patients.   Based on the drug-gene interactions involved in the Clinical Pharmacogenetics Implementation Consortium guidelines, whole-genome sequencing ...

The neXtProt knowledgebase in 2020: data, tools and usability improvements.

Nucleic acids research
The neXtProt knowledgebase (https://www.nextprot.org) is an integrative resource providing both data on human protein and the tools to explore these. In order to provide comprehensive and up-to-date data, we evaluate and add new data sets. We describ...

BiGG Models 2020: multi-strain genome-scale models and expansion across the phylogenetic tree.

Nucleic acids research
The BiGG Models knowledge base (http://bigg.ucsd.edu) is a centralized repository for high-quality genome-scale metabolic models. For the past 12 years, the website has allowed users to browse and search metabolic models. Within this update, we detai...

The reactome pathway knowledgebase.

Nucleic acids research
The Reactome Knowledgebase (https://reactome.org) provides molecular details of signal transduction, transport, DNA replication, metabolism and other cellular processes as an ordered network of molecular transformations in a single consistent data mo...

A Collection of Benchmark Data Sets for Knowledge Graph-based Similarity in the Biomedical Domain.

Database : the journal of biological databases and curation
The ability to compare entities within a knowledge graph is a cornerstone technique for several applications, ranging from the integration of heterogeneous data to machine learning. It is of particular importance in the biomedical domain, where seman...

The most cited and co-cited COVID-19 articles: Knowledge base for rehabilitation team members.

Work (Reading, Mass.)
BACKGROUND: The COVID-19 outbreak pandemic is a situation without a tested action plan. Rehabilitation team members have been called for duty with new responsibilities in addition to their conventional roles in the healthcare system. The infectious d...

The Genome3D Consortium for Structural Annotations of Selected Model Organisms.

Methods in molecular biology (Clifton, N.J.)
Genome3D consortium is a collaborative project involving protein structure prediction and annotation resources developed by six world-leading structural bioinformatics groups, based in the United Kingdom (namely Blundell, Murzin, Gough, Sternberg, Or...

CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.

Database : the journal of biological databases and curation
Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary devel...

UPCLASS: a deep learning-based classifier for UniProtKB entry publications.

Database : the journal of biological databases and curation
In the UniProt Knowledgebase (UniProtKB), publications providing evidence for a specific protein annotation entry are organized across different categories, such as function, interaction and expression, based on the type of data they contain. To prov...