Motivation Over the past years, many computational methods have been developed to
incorporate information about phenotypes for disease–gene prioritization task. These …

Motivation Ontologies are widely used in biology for data annotation, integration and
analysis. In addition to formally structured axioms, ontologies contain meta-data in the form …

Motivation In the past years, several methods have been developed to incorporate
information about phenotypes into computational disease gene prioritization methods …

Background Predicting disease causative genes (or simply, disease genes) has played
critical roles in understanding the genetic basis of human diseases and further providing …

Motivation: Many hereditary human diseases are polygenic, resulting from sequence
alterations in multiple genes. Genomic linkage and association studies are commonly …

Motivation: Discerning genetic contributions to diseases not only enhances our
understanding of disease mechanisms, but also leads to translational opportunities for drug …

Background Exome sequencing is a promising method for diagnosing patients with a
complex phenotype. However, variant interpretation relative to patient phenotype can be …

Background The identification of genes involved in human complex diseases remains a
great challenge in computational systems biology. Although methods have been developed …

Background Phenotypes and diseases may be related to seemingly dissimilar phenotypes
in other species by means of the orthology of underlying genes. Such “orthologous …

The first decade of Genome Wide Association Studies (GWAS) has uncovered a wealth of
disease-associated variants. Two important derivations will be the translation of this …