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Allan Peter Davis et al.
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William P. Bone et al.
GENETICS IN MEDICINE (2016)
WormBase 2016: expanding to enable helminth genomic research
Kevin L. Howe et al.
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Hymenoptera Genome Database: integrating genome annotations in HymenopteraMine
Christine G. Elsik et al.
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Helen Attrill et al.
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PANTHER version 10: expanded protein families and functions, and analysis tools
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ClinVar: public archive of interpretations of clinically relevant variants
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Julie A. McMurry et al.
GENETICS (2016)
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Monkol Lek et al.
NATURE (2016)
Navigating the Phenotype Frontier: The Monarch Initiative
Julie A. McMurry et al.
GENETICS (2016)
FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation
Jerven T. Bolleman et al.
JOURNAL OF BIOMEDICAL SEMANTICS (2016)
The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability
Alexander D. Diehl et al.
JOURNAL OF BIOMEDICAL SEMANTICS (2016)
The Ontology for Biomedical Investigations
Anita Bandrowski et al.
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High-performance web services for querying gene and variant annotation
Jiwen Xin et al.
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Tudor Groza et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
KaBOB: ontology-based semantic integration of biomedical databases
Kevin M. Livingston et al.
BMC BIOINFORMATICS (2015)
Cross-organism analysis using InterMine
Rachel Lyne et al.
GENESIS (2015)
ZFIN, The zebrafish model organism database: Updates and new directions
Leyla Ruzicka et al.
GENESIS (2015)
Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
Christopher J. Mungall et al.
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
Mouse anatomy ontologies: enhancements and tools for exploring and integrating biomedical data
Terry F. Hayamizu et al.
MAMMALIAN GENOME (2015)
Mouse Genome Informatics (MGI): reflecting on 25 years
Janan T. Eppig et al.
MAMMALIAN GENOME (2015)
Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis
Susan M. Bello et al.
MAMMALIAN GENOME (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora
T. Groza et al.
Database-The Journal of Biological Databases and Curation (2015)
Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens
Cynthia L. Smith et al.
JOURNAL OF BIOMEDICAL SEMANTICS (2015)
Gene Ontology Consortium: going forward
J. A. Blake et al.
NUCLEIC ACIDS RESEARCH (2015)
The BioGRID interaction database: 2015 update
Andrew Chatr-aryamontri et al.
NUCLEIC ACIDS RESEARCH (2015)
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
Joanna S. Amberger et al.
NUCLEIC ACIDS RESEARCH (2015)
Improved exome prioritization of disease genes through cross-species phenotype comparison
Peter N. Robinson et al.
GENOME RESEARCH (2014)
Mouse Phenome Database
Stephen C. Grubb et al.
NUCLEIC ACIDS RESEARCH (2014)
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Koehler et al.
NUCLEIC ACIDS RESEARCH (2014)
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Danielle Welter et al.
NUCLEIC ACIDS RESEARCH (2014)
Data, information, knowledge and principle: back to metabolism in KEGG
Minoru Kanehisa et al.
NUCLEIC ACIDS RESEARCH (2014)
InterMine: extensive web services for modern biology
Alex Kalderimis et al.
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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
Tomasz Zemojtel et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Standardized description of scientific evidence using the Evidence Ontology (ECO)
Marcus C. Chibucos et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2014)
Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon
Melissa A. Haendel et al.
JOURNAL OF BIOMEDICAL SEMANTICS (2014)
Prediction of gene-phenotype associations in humans, mice, and plants using phenologs
John O. Woods et al.
BMC BIOINFORMATICS (2013)
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
Marta Girdea et al.
HUMAN MUTATION (2013)
PhenoDigm: analyzing curated annotations to associate animal models with human diseases
Damian Smedley et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2013)
Representation of Rare Diseases in Health Information Systems: The Orphanet Approach to Serve a Wide Range of End Users
Ana Rath et al.
HUMAN MUTATION (2012)
The mouse-human anatomy ontology mapping project
Terry F. Hayamizu et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2012)
D3: Data-Driven Documents
Michael Bostock et al.
IEEE TRANSACTIONS ON VISUALIZATION AND COMPUTER GRAPHICS (2011)
Evolution of the Sequence Ontology terms and relationships
Christopher J. Mungall et al.
JOURNAL OF BIOMEDICAL INFORMATICS (2011)
Phenomics: the next challenge
David Houle et al.
NATURE REVIEWS GENETICS (2010)
Systematic discovery of nonobvious human disease models through orthologous phenotypes
Kriston L. McGary et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Integrating phenotype ontologies across multiple species
Christopher J. Mungall et al.
GENOME BIOLOGY (2010)
Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
Nicole L. Washington et al.
PLOS BIOLOGY (2009)
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration
Barry Smith et al.
NATURE BIOTECHNOLOGY (2007)
Relations in biomedical ontologies
B Smith et al.
GENOME BIOLOGY (2005)
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