Integration of global resources for human genetic variation and disease

Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium

(2012) S. D. M. Brown et al.   Disease Models & Mechanisms

MouseFinder: Candidate disease genes from mouse phenotype data

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

Toward interoperable bioscience data

(2012) Susanna-Assunta Sansone et al.   NATURE GENETICS

XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments

(2012) Morris A Swertz et al.   GENOME BIOLOGY

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2011) Joanna Amberger et al.   HUMAN MUTATION

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research

(2011) Adam J. Webb et al.   HUMAN MUTATION

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

PhenomeNET: a whole-phenome approach to disease gene discovery

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

A Gene-Phenotype Network for the Laboratory Mouse and Its Implications for Systematic Phenotyping

(2011) Octavio Espinosa et al.   PLoS One

Phenotype ontologies for mouse and man: bridging the semantic gap

(2010) P. N. Schofield et al.   Disease Models & Mechanisms

Mouse project to find each gene's role

(2010) Alison Abbott   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

(2010) J. A. Blake et al.   NUCLEIC ACIDS RESEARCH

An International Bioinformatics Infrastructure to Underpin the Arabidopsis Community

(2010)   PLANT CELL

The Biological Coherence of Human Phenome Databases

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Developing the Blueprint for a Genetic Testing Registry

(2009) G. Javitt et al.   Public Health Genomics

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

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

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

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

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

Genotype–phenotype databases: challenges and solutions for the post-genomic era

(2008) Gudmundur A. Thorisson et al.   NATURE REVIEWS GENETICS

HGVbaseG2P: a central genetic association database

(2008) G. A. Thorisson et al.   NUCLEIC ACIDS RESEARCH