AI Medical Compendium Topic

Explore the latest research on artificial intelligence and machine learning in medicine.

Exome

Showing 21 to 21 of 21 articles

Clear Filters

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

Bioinformatics (Oxford, England) Dec 1, 2015
MOTIVATION: Exome sequencing has become a de facto standard method for Mendelian disease gene discovery in recent years, yet identifying disease-causing mutations among thousands of candidate variants remains a non-trivial task.
Humans Algorithms Phenotype Transcriptome Polymorphism, Single Nucleotide Genotype Computational Biology Biological Ontologies Disease Exome
View on PubMed DOI
Popular Topics
Recent Journals