SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update). - Wikidata - awgldk - TriplyDB

SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update).

SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update).

http://www.wikidata.org/entity/Q36088365

about

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes White Matter Lesion Progression: Genome-Wide Search for Genetic Influences Systematic identification of trans eQTLs as putative drivers of known disease associations Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity.Pharmacogenomic characterization of gemcitabine response--a framework for data integration to enable personalized medicine.A prostate cancer model build by a novel SVM-ID3 hybrid feature selection method using both genotyping and phenotype data from dbGaP.Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing Theranostic Biomarkers for Schizophrenia A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization.Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis.Genetic variations of PIP4K2A confer vulnerability to poor antipsychotic response in severely ill schizophrenia patients.Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population.Role of non-coding sequence variants in cancer.A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis A unified framework for association analysis with multiple related phenotypes.Influence of genetic variation on plasma protein levels in older adults using a multi-analyte panel.Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome.Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese Quantitative variability of 342 plasma proteins in a human twin population.Role of six single nucleotide polymorphisms, risk factors in coronary disease, in OLR1 alternative splicing Characterization of immune cells and perforin mutations in familiar venous thromboembolism Gender specific association of TP53 polymorphisms (EX4 215G>C Arg72Pro, IVS3+40-41ins16, and IVS6+62G>A), with risk of oral cancer subtypes and overall survival of the patients.Genome-wide Gene-Asbestos Exposure Interaction Association Study Identifies a Common Susceptibility Variant on 22q13.31 Associated with Lung Cancer Risk.Mutations in GNAL cause primary torsion dystonia.Association of TLR and TREM-1 gene polymorphisms with atherosclerosis severity in a Russian population.Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.Association of HLA class I and II genes with cutaneous leishmaniasis: a case control study from Sri Lanka and a systematic review.Gene × smoking interactions on human brain gene expression: finding common mechanisms in adolescents and adults.A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification.A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer.Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.Genetically contextual effects of smoking on genome wide DNA methylation.Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease.

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SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update).

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P2860

AceView: a comprehensive cDNA-supported gene and transcripts annotation

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

dbSNP: the NCBI database of genetic variation

miRBase: integrating microRNA annotation and deep-sequencing data

A second generation human haplotype map of over 3.1 million SNPs

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

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