The DISEASES database: Brief introduction to a database of disease-gene associations
Channel: Lars Juhl Jensen
Date: 2021-08-06

A brief introduction to the DISEASES database of disease-gene associations. The presentation gives a minimal overview of the different types of evidence that goes into DISEASES, including manually curated knowledge, automatic text mining, and data from genome-wide association studies (GWAS). DISEASES is freely available at https://diseases.jensenlab.org/.

0:00 Introduction: database content and web interface
0:22 Curated knowledge: MedlinePlus Genetics and UniProtKB/Swiss-Prot
0:56 Text mining: text corpus, dictionary-based named entity recognition, and relation extraction
2:05 GWAS data: variants, traits, GWAS Catalog, TIGA, and scoring of associations
3:07 Integration: confidence scores, identifiers, STRING integration, and accessibility