ArticleNucleic acids research2004
HGVbase: a curated resource describing human DNA variation and phenotype relationships.
Article in Nucleic acids research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed.
- The EMBL-EBI bioinformatics web and programmatic tools framework.Nucleic acids research · 2015Article
- Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.Genetics research international · 2013Article
- Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.International journal of molecular epidemiology and genetics · 2013Article
- Analyzing effects of naturally occurring missense mutations.Computational and mathematical methods in medicine · 2012Article
- UASIS: Universal Automatic SNP Identification System.BMC genomics · 2011Article
- Saturation of the human phenome.Current genomics · 2010Article
- Single-nucleotide polymorphism bioinformatics: a comprehensive review of resources.Circulation. Cardiovascular genetics · 2009Review
- HGVbaseG2P: a central genetic association database.Nucleic acids research · 2009Article
- An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.BMC bioinformatics · 2008Article
- Null allele sequence structure at the DYS448 locus and implications for profile interpretation.International journal of legal medicine · 2008Article
- Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information.BMC bioinformatics · 2008Article
- In silico detection of sequence variations modifying transcriptional regulation.PLoS computational biology · 2008Article
- MutationView/KMcancerDB: a database for cancer gene mutations.Cancer science · 2007Review
- Predicting deleterious nsSNPs: an analysis of sequence and structural attributes.BMC bioinformatics · 2006Article
- The Indian Genome Variation database (IGVdb): a project overview.Human genetics · 2005Review
- SOAP-based services provided by the European Bioinformatics Institute.Nucleic acids research · 2005Article
- novoSNP, a novel computational tool for sequence variation discovery.Genome research · 2005Article
- d-matrix - database exploration, visualization and analysis.BMC bioinformatics · 2004Article
- SNPbox: web-based high-throughput primer design from gene to genome.Nucleic acids research · 2004Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Human Genome Variation Database (HGVbase; http://hgvbase.cgb.ki.se) has provided a curated summary of human DNA variation for more than 5 years, thus facilitating research into DNA sequence variation and human phenotypes. The database has undergone many changes and improvements to accommodate increasing volumes and new types of data. The focus of HGVbase has recently shifted towards information on haplotypes and phenotypes, relationships between phenotypes and DNA variation, and collaborative efforts to provide a global resource for genome-phenome data. Open sharing and precise phenotype definitions are necessary to advance the current understanding of common diseases that are typified by complex aetiologies, small genetic effect sizes and multiple confounding factors that obscure positive study results. Association data will increasingly be collected as part of this new project thrust. This report describes the evolving features of HGVbase, and covers in detail the technological choices we have made to enable efficient storage and data mining of increasingly large and complex data sets.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.