Dataset Information

Factors affecting interactome-based prediction of human genes associated with clinical signs.

ABSTRACT:

Background

Clinical signs are a fundamental aspect of human pathologies. While disease diagnosis is problematic or impossible in many cases, signs are easier to perceive and categorize. Clinical signs are increasingly used, together with molecular networks, to prioritize detected variants in clinical genomics pipelines, even if the patient is still undiagnosed. Here we analyze the ability of these network-based methods to predict genes that underlie clinical signs from the human interactome.

Results

Our analysis reveals that these approaches can locate genes associated with clinical signs with variable performance that depends on the sign and associated disease. We analyzed several clinical and biological factors that explain these variable results, including number of genes involved (mono- vs. oligogenic diseases), mode of inheritance, type of clinical sign and gene product function.

Conclusions

Our results indicate that the characteristics of the clinical signs and their related diseases should be considered for interpreting the results of network-prediction methods, such as those aimed at discovering disease-related genes and variants. These results are important due the increasing use of clinical signs as an alternative to diseases for studying the molecular basis of human pathologies.

SUBMITTER: Gonzalez-Perez S

PROVIDER: S-EPMC5514523 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Publications

Factors affecting interactome-based prediction of human genes associated with clinical signs.

González-Pérez Sara S Pazos Florencio F Chagoyen Mónica M

BMC bioinformatics 20170717 1

<h4>Background</h4>Clinical signs are a fundamental aspect of human pathologies. While disease diagnosis is problematic or impossible in many cases, signs are easier to perceive and categorize. Clinical signs are increasingly used, together with molecular networks, to prioritize detected variants in clinical genomics pipelines, even if the patient is still undiagnosed. Here we analyze the ability of these network-based methods to predict genes that underlie clinical signs from the human interact ...[more]

PMID: 28715999

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Dataset Information

Factors affecting interactome-based prediction of human genes associated with clinical signs.

Background

Results

Conclusions

Publications

Factors affecting interactome-based prediction of human genes associated with clinical signs.

Similar Datasets

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