Improving disease gene prioritization using the semantic similarity of Gene Ontology terms
نویسندگان
چکیده
منابع مشابه
Improving disease gene prioritization using the semantic similarity of Gene Ontology terms
MOTIVATION Many hereditary human diseases are polygenic, resulting from sequence alterations in multiple genes. Genomic linkage and association studies are commonly performed for identifying disease-related genes. Such studies often yield lists of up to several hundred candidate genes, which have to be prioritized and validated further. Recent studies discovered that genes involved in phenotypi...
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Many bioinformatics applications would benefit from comparing proteins based on their biological role rather than their sequence. This manuscript adds two new contributions. First, a study of the correlation between Gene Ontology (GO) terms and family similarity demonstrates that protein families constitute an appropriate baseline for validating GO similarity. Secondly, we introduce GraSM, a no...
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One of the current challenges in the Life Sciences is to extract the knowledge contained in the vast amount of data that the genomic and post-genomic techniques are producing. One of the major efforts in this area was the development of the Gene Ontology (GO), a BioOntology that contains terms that describe gene products, organized in a graph structure. Gene products annotated with ontology ter...
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Successful applications of the gene ontology to the inference of functional relationships between gene products in recent years have raised the need for computational methods to automatically calculate semantic similarity between gene products based on semantic similarity of gene ontology terms. Nevertheless, existing methods, though having been widely used in a variety of applications, may sig...
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MOTIVATION Measures of protein functional similarity are essential tools for function prediction, evaluation of protein-protein interactions (PPIs) and other applications. Several existing methods perform comparisons between proteins based on the semantic similarity of their GO terms; however, these measures are highly sensitive to modifications in the topological structure of GO, tend to be fo...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2010
ISSN: 1460-2059,1367-4803
DOI: 10.1093/bioinformatics/btq384