LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC.
Nucleic Acids Res
; 46(W1): W530-W536, 2018 07 02.
Article
en En
| MEDLINE
| ID: mdl-29762787
ABSTRACT
The identification and interpretation of genomic variants play a key role in the diagnosis of genetic diseases and related research. These tasks increasingly rely on accessing relevant manually curated information from domain databases (e.g. SwissProt or ClinVar). However, due to the sheer volume of medical literature and high cost of expert curation, curated variant information in existing databases are often incomplete and out-of-date. In addition, the same genetic variant can be mentioned in publications with various names (e.g. 'A146T' versus 'c.436G>A' versus 'rs121913527'). A search in PubMed using only one name usually cannot retrieve all relevant articles for the variant of interest. Hence, to help scientists, healthcare professionals, and database curators find the most up-to-date published variant research, we have developed LitVar for the search and retrieval of standardized variant information. In addition, LitVar uses advanced text mining techniques to compute and extract relationships between variants and other associated entities such as diseases and chemicals/drugs. LitVar is publicly available at https//www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/LitVar.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Interfaz Usuario-Computador
/
Polimorfismo de Nucleótido Simple
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Minería de Datos
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Motor de Búsqueda
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Curaduría de Datos
Límite:
Humans
Idioma:
En
Revista:
Nucleic Acids Res
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos