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...
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 (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...
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 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...
Database : the journal of biological databases and curation
Jan 1, 2020
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...
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...
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2020
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...
Database : the journal of biological databases and curation
Jan 1, 2020
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...
Database : the journal of biological databases and curation
Jan 1, 2020
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...
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