Examples

We provide a set of examples for each type of omics data that can be processed by PathwayMatcher:

• Genetic Variants
• Genes
• Peptides
• Proteins
• Proteoforms

Genetic Variants

The example datasets are lists of single-nucleotide polymorphisms (SNP) represented with the RsId identifiers defined in dbSNP^[1].

• The GIANT(Genetic Investigation of ANthropometric Traits) dataset.

The BMI Data Files from the Summary Statistics for Models Adjusting for Smoking Status can be downloaded here.

• Other examples can be obtained from DisGeNET^[1], using the curated variant-disease association list:
  • Cystic fibrosis
  • Diabetes
  • Diabetes in the Youth
  • Huntington disease
  • Hypoglycemia
  • Ulcerative colitis

Genes

• Cystic fibrosis
• Diabetes
• Diabetes in the Youth
• Huntington disease
• Hypoglycemia
• Ulcerative colitis

Peptides

• Insulin related signaling peptides

Proteins

• Cystic fibrosis
• Diabetes
• Diabetes in the Youth
• Huntington disease
• Hypoglycemia
• Ulcerative colitis

References

[1] dbSNP
[2] Janet Piñero, Àlex Bravo, Núria Queralt-Rosinach, Alba Gutiérrez-Sacristán, Jordi Deu-Pons, Emilio Centeno, Javier García-García, Ferran Sanz, Laura I. Furlong; DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants, Nucleic Acids Research, Volume 45, Issue D1, 4 January 2017, Pages D833–D839
[3] VCF v4.3