MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
出版年份 2021 全文链接
标题
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
作者
关键词
-
出版物
BIOINFORMATICS
Volume -, Issue -, Pages -
出版商
Oxford University Press (OUP)
发表日期
2021-01-09
DOI
10.1093/bioinformatics/btaa1096
参考文献
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。- The GWAS Diversity Monitor tracks diversity by disease in real time
- (2020) Melinda C. Mills et al. NATURE GENETICS
- Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data
- (2020) Huwenbo Shi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study
- (2020) Yao Hu et al. PLoS Genetics
- Genomics of disease risk in globally diverse populations
- (2019) Deepti Gurdasani et al. NATURE REVIEWS GENETICS
- Mendelian Gene Discovery: Fast and Furious with No End in Sight
- (2019) Michael J. Bamshad et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
- (2019) Antonio Rueda Martin et al. NATURE GENETICS
- Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval
- (2019) Emily A. King et al. PLoS Genetics
- Clinical features of patients with diabetic anterior uveitis
- (2018) Takayo Watanabe et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
- (2018) Masahiro Kanai et al. NATURE GENETICS
- GIGGLE: a search engine for large-scale integrated genome analysis
- (2018) Ryan M Layer et al. NATURE METHODS
- ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci
- (2018) David Stacey et al. NUCLEIC ACIDS RESEARCH
- Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
- (2018) Angli Xue et al. Nature Communications
- Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
- (2018) Malika Kumar Freund et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human Disease Ontology 2018 update: classification, content and workflow expansion
- (2018) Lynn M Schriml et al. NUCLEIC ACIDS RESEARCH
- OMIM.org: leveraging knowledge across phenotype–gene relationships
- (2018) Joanna S Amberger et al. NUCLEIC ACIDS RESEARCH
- The UCSC Genome Browser database: 2019 update
- (2018) Maximilian Haeussler et al. NUCLEIC ACIDS RESEARCH
- The Gene Ontology Resource: 20 years and still GOing strong
- (2018) NUCLEIC ACIDS RESEARCH
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
- (2018) Annalisa Buniello et al. NUCLEIC ACIDS RESEARCH
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
- (2018) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Open Targets Platform: new developments and updates two years on
- (2018) Denise Carvalho-Silva et al. NUCLEIC ACIDS RESEARCH
- Genetic architecture: the shape of the genetic contribution to human traits and disease
- (2017) Nicholas J. Timpson et al. NATURE REVIEWS GENETICS
- The Reactome Pathway Knowledgebase
- (2017) Antonio Fabregat et al. NUCLEIC ACIDS RESEARCH
- Functional mapping and annotation of genetic associations with FUMA
- (2017) Kyoko Watanabe et al. Nature Communications
- Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
- (2016) Yisheng Yang et al. ENDOCRINE REVIEWS
- A review of low-density lipoprotein cholesterol, treatment strategies, and its impact on cardiovascular disease morbidity and mortality
- (2016) Rishi K. Wadhera et al. Journal of Clinical Lipidology
- Analyzing and interpreting genome data at the network level with ConsensusPathDB
- (2016) Ralf Herwig et al. Nature Protocols
- Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
- (2016) Maxim V. Kuleshov et al. NUCLEIC ACIDS RESEARCH
- DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
- (2016) Janet Piñero et al. NUCLEIC ACIDS RESEARCH
- The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
- (2016) Jacqueline MacArthur et al. NUCLEIC ACIDS RESEARCH
- The UniProtKB guide to the human proteome
- (2016) Lionel Breuza et al. Database-The Journal of Biological Databases and Curation
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.
- (2015) Mitchell J. Machiela et al. BIOINFORMATICS
- Classification of hand eczema
- (2015) T. Agner et al. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
- Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
- (2015) Suna Onengut-Gumuscu et al. NATURE GENETICS
- The support of human genetic evidence for approved drug indications
- (2015) Matthew R Nelson et al. NATURE GENETICS
- Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis
- (2015) Lavinia Paternoster et al. NATURE GENETICS
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
- (2015) et al. SCIENCE
- De novo mutations in PLXND1 and REV3L cause Möbius syndrome
- (2015) Laura Tomas-Roca et al. Nature Communications
- Genetic similarity between cancers and comorbid Mendelian diseases identifies candidate driver genes
- (2015) Rachel D. Melamed et al. Nature Communications
- Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene
- (2014) Paige E. Cooper et al. HUMAN MUTATION
- Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
- (2014) Claudia Giambartolomei et al. PLoS Genetics
- Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
- (2013) Akiharu Kubo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
- (2013) David R. Blair et al. CELL
- Reduction of Circulating Neutrophils Precedes and Accompanies Type 1 Diabetes
- (2013) A. Valle et al. DIABETES
- High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants
- (2013) Urko M. Marigorta et al. PLoS Genetics
- INRICH: interval-based enrichment analysis for genome-wide association studies
- (2012) Phil H. Lee et al. BIOINFORMATICS
- 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
- APPRIS: annotation of principal and alternative splice isoforms
- (2012) Jose Manuel Rodriguez et al. NUCLEIC ACIDS RESEARCH
- clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters
- (2012) Guangchuang Yu et al. OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
- Pathway Commons, a web resource for biological pathway data
- (2010) E. G. Cerami et al. NUCLEIC ACIDS RESEARCH
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Noninvasive in vitro and in vivo assessment of epidermal hyperkeratosis and dermal fibrosis in atopic dermatitis
- (2009) Jyh-Hong Lee et al. JOURNAL OF BIOMEDICAL OPTICS
- Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
- (2009) Da Wei Huang et al. Nature Protocols
- A common sequence motif associated with recombination hot spots and genome instability in humans
- (2008) Simon Myers et al. NATURE GENETICS
- High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation
- (2008) Jean-Baptiste Veyrieras et al. PLoS Genetics
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now