A network-based machine-learning framework to identify both functional modules and disease genes.
PMID:33409574
Pathway Maps of Orphan and Complex Diseases Using an Integrative Computational Approach.
PMID:33376724
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier.
PMID:33206638
An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD).
PMID:33183351
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study.
PMID:33006565
Enabling ad-hoc reuse of private data repositories through schema extraction.
PMID:32641124
DDIEM: drug database for inborn errors of metabolism.
PMID:32527280
Identification of genes and miRNA associated with idiopathic recurrent pregnancy loss: an exploratory data mining study.
PMID:32487076
TarGo: network based target gene selection system for human disease related mouse models.
PMID:32257911
Mapping the perturbome network of cellular perturbations.
PMID:31723137
HPO-Shuffle: an associated gene prioritization strategy and its application in drug repurposing for the treatment of canine epilepsy.
PMID:31427480
Analysis of disease organ as a novel phenotype towards disease genetics understanding.
PMID:31207382
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
PMID:30626929
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
PMID:29860484
Phenotypic Analysis of Clinical Narratives Using Human Phenotype Ontology.
PMID:29295162
A non-negative matrix factorization based method for predicting disease-associated miRNAs in miRNA-disease bilayer network.
PMID:28968753
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.
PMID:28864117
Recent advances in predicting gene-disease associations.
PMID:28529714
Gene ORGANizer: linking genes to the organs they affect.
PMID:28444223
The anatomy of phenotype ontologies: principles, properties and applications.
PMID:28387809
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.
PMID:26051359
Similarity-based search of model organism, disease and drug effect phenotypes.
PMID:25763178
An integrative, translational approach to understanding rare and orphan genetically based diseases.
PMID:23853703
Development of korean rare disease knowledge base.
PMID:23346478
Computational tools for comparative phenomics: the role and promise of ontologies.
PMID:22814867
Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases.
PMID:22719993
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
PMID:22661645
Mouse genetic and phenotypic resources for human genetics.
PMID:22422677
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.
PMID:21987712
genenames.org: the HGNC resources in 2011.
PMID:20929869