Solutions

DISGENET plus can boost your precision medicine and drug R&D applications.


See our case studies to learn more.

Use case: Molecular diagnostics

User: Genomic medicine clinician/researcher

Challenges in the use case

Modern genome sequencing technologies are fostering the integration of genomics into clinical practice. The exploration of human variation at large scale by genome sequencing or SNP array genotyping are enabling the identification of disease-associated variants for a wide range of diseases and conditions. Nevertheless, the interpretation of the results of genomic analysis and the identification of variants of clinical relevance remain a significant challenge. Variant assessment still involves manual exploration of multiple sources of data, which requires a significant amount of time and experts in the domain.

How DISGENET plus can help

DISGENET plus supports the automatization of variant interpretation. DISGENET plus brings in a single platform information from authoritative resources in disease genomics plus up-to-date information from the literature, making possible the interrogation of several databases in a single click. This can greatly facilitate the process of identifying variants of clinical relevance, ultimately leading to earlier and more accurate diagnosis.

Advantages of DISGENET plus

DISGENET plus can be incorporated into variant interpretation pipelines, supporting automation and reproducibility of the process. Up-to-date information from the literature enables to keep pace with latest findings in this area. Scoring tools enable to rank the most relevant information, and data attributes can be used for faster and easier interpretation of the clinical impact of variants.

Use case: Identification of new targets for therapeutic indications

User: Researcher in drug discovery lab

Challenges in the use case

The process of identifying targets for a disease is a time consuming, laborious process that involves the interrogation of several databases, the scientific literature, and collating and analyzing all the information in a manner that supports to make decisions on the association between a target and a disease. This process often requires bioinformatic and data mining expertise to be able to extract and integrate information from disparate resources. There is ample support that the use of genomic data in drug discovery programs increases the probability of success by at least 2-fold.

How DISGENET plus can help

DISGENET plus brings in a single platform information from authoritative resources in disease genomics plus up-to-date information from the literature, making possible the interrogation of several databases in a single click. In addition, it offers advanced tools for data prioritization and filtering. This can greatly facilitate the process of searching and prioritizing information on targets associated to diseases, speeding up the whole process of target identification.

Advantages of DISGENET plus

Up-to-date information from the literature to keep pace with latest findings in this area. The provenance of the information allows to inspect the details of particular findings, expediting the decision making process. Scoring tools enable to rank the most relevant information. The Disease Specificity Index can be used to prioritize targets that are more specific for a particular therapeutic indication.

Use case: Characterization of disease profiles of targets to support drug safety prediction

User: Researcher in drug discovery lab

Challenges in the use case

Drug safety assessment is key in drug R&D. The process of identifying the disease profile of a target is a time consuming, laborious process that involves the interrogation of several databases, the scientific literature, and collating and analyzing all the information in a manner that supports decision-making on the association between a target and a disease. This process often requires bioinformatic and data mining expertise to be able to extract and integrate information from disparate resources.

How DISGENET plus can help

DISGENET plus brings in a single platform information from authoritative resources in disease genomics plus up-to-date information from the literature, making possible the interrogation of several databases in a single click. In addition, it offers advanced tools for data prioritization and filtering. This can greatly facilitate the process of searching and prioritizing information on adverse event phenotypes associated to targets.

Advantages of DISGENET plus

With DISGENET plus disease profiles of targets can be easily obtained, to support drug safety prediction, and anticipate toxicities in clinical trials. Up-to-date information from the literature to keep pace with latest findings in this area. The provenance of the information allows to inspect the details of particular findings, expediting the decision making process.

Use case: Development of disease-specific gene panels

User: Research scientist in a biotech company

Challenges in the use case

To select candidate genes to develop disease specific gene panels for NGS.

How DISGENET plus can help

DISGENET plus provides a comprehensive database of gene-disease associations for the full spectrum of human diseases. Since it collates data from multiple resources and complements it with the most recent findings extracted from the literature, it has one of the most complete catalogues of gene-disease associations.

Advantages of DISGENET plus

The score provided by DISGENET plus supports the selection of the most relevant genes for a disease. The use of ontologies and disease hierarchies allows to explore the information in a hierarchical manner, making it easier the navigation and selection of the information. Disease similarity metrics enable advanced search and selection options.