HGVbase

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HGVbase

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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hgvbase

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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Other names: hgvbase

Attempt to summarize all known sequence variations in the human genome, to facilitate research into how genotypes affect common diseases, drug responses, and other complex phenotypes.

Webpage:

Publications:

Publications

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HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources
PMID: 11752345

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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• HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources PubMed citations: 39.

  39 articles citing: HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources

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  Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing. PMID:32962098

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  Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System. PMID:31850066

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  Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. PMID:29874871

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  A Comprehensive in Silico Analysis of Regulatory SNPs of Human CLEC7A Gene and Its Validation as Genotypic and Phenotypic Disease Marker in Recurrent Vulvovaginal Infections. PMID:29616193

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  Predicting the functional consequences of non-synonymous single nucleotide polymorphisms in IL8 gene. PMID:28747718

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  A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene. PMID:27390651

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  Computational approaches for predicting mutant protein stability. PMID:27160393

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  How to build personalized multi-omics comorbidity profiles. PMID:26157799

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  A guide to bioinformatics for immunologists. PMID:24363654

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  WormQTLHD--a web database for linking human disease to natural variation data in C. elegans. PMID:24217915

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  Unraveling genomic variation from next generation sequencing data. PMID:23885890

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  Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. PMID:23431257

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  Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation. PMID:22829731

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  Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease. PMID:22530123

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  Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909

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  A database and API for variation, dense genotyping and resequencing data. PMID:20459810

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  Ensembl variation resources. PMID:20459805

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  Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. PMID:20455263

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  CanProVar: a human cancer proteome variation database. PMID:20052754

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  From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways. PMID:19758470

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  Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach. PMID:19389263

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  A novel computational and structural analysis of nsSNPs in CFTR gene. PMID:18716917

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  Gene-centric characteristics of genome-wide association studies. PMID:18060058

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  Genome bioinformatic analysis of nonsynonymous SNPs. PMID:17708757

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  Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways. PMID:17537826

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  COSMIC 2005. PMID:16421597

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  nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. PMID:15980516

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  The exchangeability of amino acids in proteins. PMID:15944362

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  SNPbox: web-based high-throughput primer design from gene to genome. PMID:15215373

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  Public web-based services from the European Bioinformatics Institute. PMID:15215339

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  The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. PMID:15188009

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  A SNP-centric database for the investigation of the human genome. PMID:15046636

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  HGVbase: a curated resource describing human DNA variation and phenotype relationships. PMID:14681471

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  Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes. PMID:14625810

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  Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. PMID:14525928

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  Evolutionary algorithms for the selection of single nucleotide polymorphisms. PMID:12875658

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  DASH-2: flexible, low-cost, and high-throughput SNP genotyping by dynamic allele-specific hybridization on membrane arrays. PMID:12727908

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  Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning. PMID:12460800

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  Human non-synonymous SNPs: server and survey. PMID:12202775

Tags:

Tags

More detailed information about this field from each metasource. ×

genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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pathology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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human biology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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genotype and phenotype

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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dna polymorphism

metasource: bio.tools
version: extracted_at: 2022-11-04T11:34:47.412261

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genetic variation pathology human genotype and phenotype dna polymorphism