Ontologies

Question 1

What is an onotology?

Answer 1

Ontology is a representation of something we know about. “Ontologies” consist of a representation of things that are detectable or directly observable, and the relationships between those things.

Question 2

What is GO?

Answer 2

Bioinformatics initiative to unify the representation of gene and gene product attributes across all species.

e.g. GO:0000016- lactase activity

Question 3

What are the aims of GO terms?

Answer 3

1. Maintain and develop its controlled vocabulary of gene and gene product attributes
2. Annotate genes and gene products and assimilate and disseminate annotation data
3. Provide tools for easy access to all aspects of the data provided by the project

Question 4

What are the 3 domains gene products can be split into?

Answer 4

1. Cellular component- The parts of a cell or its extracellular environment
2. Molecular function- The elemental activities of a gene product, such as binding or catalysis
3. Biological process- Operations or sets of molecular events with a defined beginning and end, pertinent to the functioning of integrated living units: cells, tissues or organs

Question 5

What is the HPO?

Answer 5

The Human Phenotype Ontology

HPO provides a standardised vocabulary of phenotypic abnormalities encountered in human disease e.g. atrial septal defect

e.g. HP:0002017