Network and systemic approaches to studying human pathologies are helping us to gain
insight into the molecular mechanisms of and potential therapeutic interventions for human …

Background Angiogenesis is regulated by multiple genes whose variants can lead to
different disorders. Among them, rare diseases are a heterogeneous group of pathologies …

Rare diseases are challenging to diagnose due to limited patient data and genetic diversity.
Despite advances in variant prioritization, many cases remain undiagnosed. While large …

Introducción. La secuenciación masiva y la ontología del fenotipo humano han
revolucionado el diagnóstico genético, permitiendo una comprensión más clara de las …

Аннотация В работе представлены возможности использования методов обработки
естественного языка для прогностического анализа и обзора перспективных …

Introducción. La secuenciación masiva y la ontología del fenotipo humano han
revolucionado el diagnóstico genético, permitiendo una comprensión más clara de las …

To this day, near 70% of patients suffering from Mendelian diseases remain without any
diagnosis after their DNA sequencing. There is a need to study those disorders regarding …

This paper presents a disease clustering approach by utilizing the biological process
annotations from the Gene Ontology as the only data source for clustering diseases. As a …

We investigate the task of disease clustering with the functional annotations of disease
genes from the Gene Ontology using the biological process aspect. As an unsupervised …

Network and systemic approaches to studying human pathologies are helping us to gain
insight into the molecular mechanisms of and potential therapeutic interventions for human …