The DisGeNET knowledge platform for disease genomics: 2019 update
Universitat Pompeu Fabra · Hospital del Mar Research Institute
Abstract
One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large scale, hundreds of thousands of disease-associated loci have been uncovered. However, the identification of variants of clinical relevance is a significant challenge that requires comprehensive interrogation of previous knowledge and linkage to new experimental results. To assist in this complex task, we created DisGeNET (http://www.disgenet.org/), a knowledge management platform integrating and standardizing data about disease associated genes and variants from multiple sources, including the scientific literature. DisGeNET…
Citation impact
- FWCI
- 191.97
- Percentile
- 100%
- References
- 32
Authors
7- JPJanet Piñero
Universitat Pompeu Fabra, Hospital del Mar Research Institute
- JMJuan Manuel Ramírez‐Anguita
Universitat Pompeu Fabra, Hospital del Mar Research Institute
- JSJosep Saüch-Pitarch
Universitat Pompeu Fabra, Hospital del Mar Research Institute
- FRFrancesco Ronzano
Universitat Pompeu Fabra, Hospital del Mar Research Institute
- ECEmilio Centeno
Universitat Pompeu Fabra, Hospital del Mar Research Institute
Topics & keywords
- Genomics
- Interoperability
- Biology
- Suite
- Standardization
- Data science
- Identification (biology)
- Resource (disambiguation)