OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute, Agne

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. [electronic resource] - Bioinformatics (Oxford, England) Dec 2015 - 3822-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1367-4811

10.1093/bioinformatics/btv473 doi


Algorithms
Biological Ontologies
Computational Biology--methods
Disease--genetics
Exome--genetics
Genotype
Humans
Phenotype
Polymorphism, Single Nucleotide--genetics
Transcriptome