11_disease_genes.md

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Analysis of relationships between diseases and genes

Ferrán Sanz, INB, Instituto de Investigación del Hospital del Mar

Wednesday, August 2.

Genetic basis of diseases

• Monogenic diseases = f (variation in a single gene)
  • ... but other genes may modify the clinical manifestation of the disease
• Complex diseases = f (genetic factors; lifestyle; environment)

The availability of comprehensive, traceable, high quality data on genotype-phenotype associations (GDA) is key to understand the molecular mechanisms of human diseases.

DisGeNET

• DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
• DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes

• Text mining tool: BeFree

The data sources

Curated data sources

• UniProt
• CTD: Comparative Toxicogenomics Database
• Orphanet
• GWAS Catalog
• ClinVar
• HPO
• PysGeNET

The data sources: curation process

Text mining > [TM Results] > Guidelines > Experts > Annotation tool > [Annotations] > Results

Text mining and expert curation to develop a database on psychiatric diseases and their genes

Animal models

• Mouse genome informatics
• Rat genome informatics -CTD

Text mining

• LHGDN
• GAD
• BEFREE

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Semanticscience Integrated Ontology (SIO)

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disgenet2r

• ChEMBL
• PHAROS Tdark

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IBI Group