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tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine
MOTIVATION: Despite significant efforts in expert curation, clinical relevance about most of the 154 million dbSNP reference variants (RS) remains unknown. However, a wealth of knowledge about the variant biological function/disease impact is buried in unstructured literature data. Previous studies...
Guardat en:
| Publicat a: | Bioinformatics |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5860583/ https://ncbi.nlm.nih.gov/pubmed/28968638 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx541 |
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