HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q24548437

about

Ensembl variation resources The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website COSMIC 2005 A SNP-centric database for the investigation of the human genome Evolutionary algorithms for the selection of single nucleotide polymorphisms Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning.nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms A guide to bioinformatics for immunologists Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases HGVbase: a curated resource describing human DNA variation and phenotype relationships Human non-synonymous SNPs: server and survey Genome bioinformatic analysis of nonsynonymous SNPs A gentle introduction to SNP analysis: resources and tools.A workflow for mutation extraction and structure annotation.Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.Meet me halfway: when genomics meets structural bioinformatics.Unraveling genomic variation from next generation sequencing data.WormQTLHD--a web database for linking human disease to natural variation data in C. elegans.Identification of polymorphisms in the human Reprimo gene using public EST data.Gene-centric characteristics of genome-wide association studies From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways A database and API for variation, dense genotyping and resequencing data.Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population.CanProVar: a human cancer proteome variation database.Linkage disequilibrium patterns vary substantially among populations.The exchangeability of amino acids in proteins Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase Public web-based services from the European Bioinformatics Institute.How to build personalized multi-omics comorbidity profiles Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation.Expressed sequence tags (ESTs) and single nucleotide polymorphisms (SNPs): what large-scale sequencing projects can tell us about ADME.A novel computational and structural analysis of nsSNPs in CFTR gene Human mutation databases.PolyMAPr: programs for polymorphism database mining, annotation, and functional analysis.A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity.Computational approaches for predicting mutant protein stability.A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene.What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.Genome-wide association of haplotype markers to gene expression levels.

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

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description

2002 nî lūn-bûn

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2002年の論文

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Nucleic Acids Research

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HGVbase: a human sequence vari ...... broad spectrum of data sources

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A J Brookes

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D Fredman

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H Lehväslaiho

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P2860

dbSNP: the NCBI database of genetic variation

Flexible sequence similarity searching with the FASTA3 program package

SRS: information retrieval system for molecular biology data banks.

Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation.

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387-91

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