Toward knowledge support for analysis and interpretation of complex traits

Mining Skeletal Phenotype Descriptions from Scientific Literature

(2013) Tudor Groza et al.   PLoS One

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

(2012) S. C. Doelken et al.   Disease Models & Mechanisms

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

(2012) G. J. Swaminathan et al.   HUMAN MOLECULAR GENETICS

MouseFinder: Candidate disease genes from mouse phenotype data

(2012) Chao-Kung Chen et al.   HUMAN MUTATION

Ontological phenotype standards for neurogenetics

(2012) Sebastian Köhler et al.   HUMAN MUTATION

500,000 fish phenotypes: The new informatics landscape for evolutionary and developmental biology of the vertebrate skeleton

(2012) P. Mabee et al.   JOURNAL OF APPLIED ICHTHYOLOGY

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource

(2011) Ellen M McDonagh et al.   Biomarkers in Medicine

Worm Phenotype Ontology: Integrating phenotype data within and beyond the C. elegans community

(2011) Gary Schindelman et al.   BMC BIOINFORMATICS

Improving ontologies by automatic reasoning and evaluation of logical definitions

(2011) Sebastian Köhler et al.   BMC BIOINFORMATICS

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

PhenomeNET: a whole-phenome approach to disease gene discovery

(2011) R. Hoehndorf et al.   NUCLEIC ACIDS RESEARCH

PomBase: a comprehensive online resource for fission yeast

(2011) V. Wood et al.   NUCLEIC ACIDS RESEARCH

Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2)

(2010) S. N. Murphy et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

PhenoHM: human–mouse comparative phenome–genome server

(2010) Divya Sardana et al.   NUCLEIC ACIDS RESEARCH

Evolutionary Characters, Phenotypes and Ontologies: Curating Data from the Systematic Biology Literature

(2010) Wasila M. Dahdul et al.   PLoS One

Phenex: Ontological Annotation of Phenotypic Diversity

(2010) James P. Balhoff et al.   PLoS One

Systematic discovery of nonobvious human disease models through orthologous phenotypes

(2010) K. L. McGary et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

The Biological Coherence of Human Phenome Databases

(2009) Martin Oti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BioPortal: ontologies and integrated data resources at the click of a mouse

(2009) N. F. Noy et al.   NUCLEIC ACIDS RESEARCH

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation

(2009) Nicole L. Washington et al.   PLOS BIOLOGY

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BioCaster: detecting public health rumors with a Web-based text mining system

(2008) N. Collier et al.   BIOINFORMATICS

Mining phenotypes for gene function prediction

(2008) Philip Groth et al.   BMC BIOINFORMATICS

Solutions for data integration in functional genomics: a critical assessment and case study

(2008) D. Smedley et al.   BRIEFINGS IN BIOINFORMATICS

Bio2RDF: Towards a mashup to build bioinformatics knowledge systems

(2008) François Belleau et al.   JOURNAL OF BIOMEDICAL INFORMATICS