The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
出版年份 2016 全文链接
标题
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
作者
关键词
-
出版物
NUCLEIC ACIDS RESEARCH
Volume 45, Issue D1, Pages D712-D722
出版商
Oxford University Press (OUP)
发表日期
2016-11-03
DOI
10.1093/nar/gkw1128
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
- (2016) Damian Smedley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Navigating the Phenotype Frontier: The Monarch Initiative
- (2016) Julie A. McMurry et al. GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The Comparative Toxicogenomics Database: update 2017
- (2016) Allan Peter Davis et al. NUCLEIC ACIDS RESEARCH
- Navigating the Phenotype Frontier: The Monarch Initiative
- (2016) Julie A. McMurry et al. GENETICS
- FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation
- (2016) Jerven T. Bolleman et al. Journal of Biomedical Semantics
- The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability
- (2016) Alexander D. Diehl et al. Journal of Biomedical Semantics
- The Ontology for Biomedical Investigations
- (2016) Anita Bandrowski et al. PLoS One
- The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
- (2015) Tudor Groza et al. AMERICAN JOURNAL OF HUMAN GENETICS
- KaBOB: ontology-based semantic integration of biomedical databases
- (2015) Kevin M Livingston et al. BMC BIOINFORMATICS
- Cross-organism analysis using InterMine
- (2015) Rachel Lyne et al. GENESIS
- ZFIN, The zebrafish model organism database: Updates and new directions
- (2015) Leyla Ruzicka et al. GENESIS
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
- (2015) William P. Bone et al. GENETICS IN MEDICINE
- Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
- (2015) Christopher J. Mungall et al. HUMAN MUTATION
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- Mouse anatomy ontologies: enhancements and tools for exploring and integrating biomedical data
- (2015) Terry F. Hayamizu et al. MAMMALIAN GENOME
- Mouse Genome Informatics (MGI): reflecting on 25 years
- (2015) Janan T. Eppig et al. MAMMALIAN GENOME
- Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis
- (2015) Susan M. Bello et al. MAMMALIAN GENOME
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- WormBase 2016: expanding to enable helminth genomic research
- (2015) Kevin L. Howe et al. NUCLEIC ACIDS RESEARCH
- Hymenoptera Genome Database: integrating genome annotations in HymenopteraMine
- (2015) Christine G. Elsik et al. NUCLEIC ACIDS RESEARCH
- FlyBase: establishing a Gene Group resource forDrosophila melanogaster
- (2015) Helen Attrill et al. NUCLEIC ACIDS RESEARCH
- PANTHER version 10: expanded protein families and functions, and analysis tools
- (2015) Huaiyu Mi et al. NUCLEIC ACIDS RESEARCH
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora
- (2015) T. Groza et al. Database-The Journal of Biological Databases and Curation
- Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens
- (2015) Cynthia L Smith et al. Journal of Biomedical Semantics
- Gene Ontology Consortium: going forward
- (2014) NUCLEIC ACIDS RESEARCH
- InterMine: extensive web services for modern biology
- (2014) Alex Kalderimis et al. NUCLEIC ACIDS RESEARCH
- The BioGRID interaction database: 2015 update
- (2014) Andrew Chatr-aryamontri et al. NUCLEIC ACIDS RESEARCH
- OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
- (2014) Joanna S. Amberger et al. NUCLEIC ACIDS RESEARCH
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
- (2014) T. Zemojtel et al. Science Translational Medicine
- Standardized description of scientific evidence using the Evidence Ontology (ECO)
- (2014) M. C. Chibucos et al. Database-The Journal of Biological Databases and Curation
- Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon
- (2014) Melissa A Haendel et al. Journal of Biomedical Semantics
- Prediction of gene–phenotype associations in humans, mice, and plants using phenologs
- (2013) John O Woods et al. BMC BIOINFORMATICS
- Improved exome prioritization of disease genes through cross-species phenotype comparison
- (2013) P. N. Robinson et al. GENOME RESEARCH
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- Mouse Phenome Database
- (2013) Stephen C. Grubb et al. NUCLEIC ACIDS RESEARCH
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
- (2013) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
- (2013) Danielle Welter et al. NUCLEIC ACIDS RESEARCH
- Data, information, knowledge and principle: back to metabolism in KEGG
- (2013) Minoru Kanehisa et al. NUCLEIC ACIDS RESEARCH
- PhenoDigm: analyzing curated annotations to associate animal models with human diseases
- (2013) D. Smedley et al. Database-The Journal of Biological Databases and Curation
- Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users
- (2012) Ana Rath et al. HUMAN MUTATION
- The mouse-human anatomy ontology mapping project
- (2012) T. F. Hayamizu et al. Database-The Journal of Biological Databases and Curation
- D³ Data-Driven Documents
- (2011) M. Bostock et al. IEEE TRANSACTIONS ON VISUALIZATION AND COMPUTER GRAPHICS
- Evolution of the Sequence Ontology terms and relationships
- (2010) Christopher J. Mungall et al. JOURNAL OF BIOMEDICAL INFORMATICS
- Phenomics: the next challenge
- (2010) David Houle et al. NATURE REVIEWS GENETICS
- 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
- Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
- (2009) Nicole L. Washington et al. PLOS BIOLOGY
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