Use case: Molecular diagnostics
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.