相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
Marc V. Singleton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Improved exome prioritization of disease genes through cross-species phenotype comparison
Peter N. Robinson et al.
GENOME RESEARCH (2014)
Jannovar: A Java Library for Exome Annotation
Marten Jaeger et al.
HUMAN MUTATION (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
Phen-Gen: combining phenotype and genotype to analyze rare disorders
Asif Javed et al.
NATURE METHODS (2014)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
RADB: a database of rheumatoid arthritis-related polymorphisms
Ruijie Zhang et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2014)
Refinement in Localization and Identification of Gene Regions Associated with Crohn Disease
Heather Elding et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
PosMed: ranking genes and bioresources based on Semantic Web Association Study
Yuko Makita et al.
NUCLEIC ACIDS RESEARCH (2013)
VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment
Lukas Habegger et al.
BIOINFORMATICS (2012)
HTRIdb: an open-access database for experimentally verified human transcriptional regulation interactions
Luiz A. Bovolenta et al.
BMC GENOMICS (2012)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
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)
wANNOVAR: annotating genetic variants for personal genomes via the web
Xiao Chang et al.
JOURNAL OF MEDICAL GENETICS (2012)
Seventy-five genetic loci influencing the human red blood cell
Pim van der Harst et al.
NATURE (2012)
Disease Ontology: a backbone for disease semantic integration
Lynn Marie Schriml et al.
NUCLEIC ACIDS RESEARCH (2012)
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Carol Jean Saunders et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
MEDIC: a practical disease vocabulary used at the Comparative Toxicogenomics Database
Allan Peter Davis et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2012)
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
Gholson J. Lyon et al.
GENOME MEDICINE (2012)
A New Face and New Challenges for Online Mendelian Inheritance in Man (OMIM®)
Joanna Amberger et al.
HUMAN MUTATION (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
T1DBase: update 2011, organization and presentation of large-scale data sets for type 1 diabetes research
Oliver S. Burren et al.
NUCLEIC ACIDS RESEARCH (2011)
genenames.org: the HGNC resources in 2011
Ruth L. Seal et al.
NUCLEIC ACIDS RESEARCH (2011)
CADgene: a comprehensive database for coronary artery disease genes
Hui Liu et al.
NUCLEIC ACIDS RESEARCH (2011)
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2011)
Improving disease gene prioritization using the semantic similarity of Gene Ontology terms
Andreas Schlicker et al.
BIOINFORMATICS (2010)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
Type 2 diabetes genetic association database manually curated for the study design and odds ratio
Ji Eun Lim et al.
BMC MEDICAL INFORMATICS AND DECISION MAKING (2010)
The Human Phenotype Ontology
P. N. Robinson et al.
CLINICAL GENETICS (2010)
The NCBI BioSystems database
Lewis Y. Geer et al.
NUCLEIC ACIDS RESEARCH (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
GeneCards Version 3: the human gene integrator
Marilyn Safran et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2010)
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Sebastian Koehler et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Gene prioritization through genomic data fusion
S Aerts et al.
NATURE BIOTECHNOLOGY (2006)
SNPs3D: Candidate gene and SNP selection for association studies
P Yue et al.
BMC BIOINFORMATICS (2006)
Human protein reference database as a discovery resource for proteomics
S Peri et al.
NUCLEIC ACIDS RESEARCH (2004)
分享论文
