Semantically enabling a genome-wide association study database

Towards linked open gene mutations data

(2012) Achille Zappa et al.   BMC BIOINFORMATICS

Integration of global resources for human genetic variation and disease

(2012) Paul N. Schofield et al.   HUMAN MUTATION

Uberon, an integrative multi-species anatomy ontology

(2012) Christopher J Mungall et al.   GENOME BIOLOGY

Modeling biomedical experimental processes with OBI

(2012) Ryan R Brinkman et al.   Journal of Biomedical Semantics

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

(2011) Morris A Swertz et al.   BMC BIOINFORMATICS

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

(2011) Gary Schindelman et al.   BMC BIOINFORMATICS

Deploying mutation impact text-mining software with the SADI Semantic Web Services framework

(2011) Alexandre Riazanov et al.   BMC BIOINFORMATICS

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

(2011) Belinda Giardine et al.   NATURE GENETICS

How orthogonal are the OBO Foundry ontologies?

(2011) Amir Ghazvinian et al.   Journal of Biomedical Semantics

The Semantic Automated Discovery and Integration (SADI) Web service Design-Pattern, API and Reference Implementation

(2011) Mark D Wilkinson et al.   Journal of Biomedical Semantics

Algorithms and semantic infrastructure for mutation impact extraction and grounding

(2010) Jonas B Laurila et al.   BMC GENOMICS

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

High-throughput mouse phenotyping

(2010) Hilary Gates et al.   METHODS

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

MeSH Up: effective MeSH text classification for improved document retrieval

(2009) Dolf Trieschnigg et al.   BIOINFORMATICS

Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data

(2009) Tim Beck et al.   BMC BIOINFORMATICS

BioMart – biological queries made easy

(2009) Damian Smedley et al.   BMC GENOMICS

Annotating the human genome with Disease Ontology

(2009) John D Osborne et al.   BMC GENOMICS

Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease

(2009) John M. Hancock et al.   MAMMALIAN GENOME

Genome-wide association study identifies eight loci associated with blood pressure

(2009) Christopher Newton-Cheh et al.   NATURE GENETICS

Genomewide Association Studies — Illuminating Biologic Pathways

(2009) Joel N. Hirschhorn   NEW ENGLAND JOURNAL OF MEDICINE

Genome-wide association study of acute post-surgical pain in humans

(2009) Hyungsuk Kim et al.   PHARMACOGENOMICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Animal trait ontology: The importance and usefulness of a unified trait vocabulary for animal species

(2008) L. M. Hughes et al.   JOURNAL OF ANIMAL SCIENCE

Bio2RDF: Towards a mashup to build bioinformatics knowledge systems

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

Candidate Single-Nucleotide Polymorphisms From a Genomewide Association Study of Alzheimer Disease

(2007) Hao Li et al.   ARCHIVES OF NEUROLOGY