FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.
paper
Cited
Public
- Authors
- Yuan, Hsiang-Yu; Chiou, Jen-Jie; Tseng, Wen-Hsien; Liu, Chia-Hung; Liu, Chuan-Kun; Lin, Yi-Jung; Wang, Hui-Hung; Yao, Adam; Chen, Yuan-Tsong; Hsu, Chun-Nan
- Year
- 2006
- Journal
- Nucleic acids research
- PMID
- 16845089
- DOI
- 10.1093/nar/gkl236
- PMCID
- PMC1538865
Single nucleotide polymorphism (SNP) prioritization based on the phenotypic risk is essential for association studies. Assessment of the risk requires access to a variety of heterogeneous biological databases and analytical tools. FASTSNP (function analysis and selection tool for single nucleotide polymorphisms) is a web server that allows users to efficiently identify and prioritize high-risk SNPs according to their phenotypic risks and putative functional effects. A unique feature of FASTSNP is that the functional effect information used for SNP prioritization is always up-to-date, because FASTSNP extracts the information from 11 external web servers at query time using a team of web wrapper agents. Moreover, FASTSNP is extendable by simply deploying more Web wrapper agents. To validate the results of our prioritization, we analyzed 1569 SNPs from the SNP500Cancer database. The results show that SNPs with a high predicted risk exhibit low allele frequencies for the minor alleles, consistent with a well-known finding that a strong selective pressure exists for functional polymorphisms. We have been using FASTSNP for 2 years and FASTSNP enables us to discover a novel promoter polymorphism. FASTSNP is available at http://fastsnp.ibms.sinica.edu.tw.
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Next β
| Name | Type |
|---|---|
| Agent Toolbox local | drug |
| allele | cohort |
| alternative splicing | drug |
| analytical tools local | drug |
| candidate SNP | cohort |
| coding SNP local | variant |
| complex diseases | phenotype |
| cross-reference table local | drug |
| cystic fibrosis | phenotype |
| decision tree local | drug |
| disease phenotypes | phenotype |
| drug | drug |
| Ensembl | drug |
| Ensembl Gene Name local | drug |
| EnsemblMart database local | drug |
| Ensembl Protein Report local | drug |
| ethnic groups | cohort |
| exonic splicing enhancer local | drug |
| exonic splicing silencer local | drug |
| FASTSNP local | drug |
| functional effect local | variant |
| functional SNP | cohort |
| Galaxy local | drug |
| gene | gene |
| genes | gene |
| gene sequences local | drug |
| genomic context sequences local | drug |
| haplotype | variant |
| HapMap | cohort |
| high-risk ranking local | phenotype |
| HUGO Gene Aliases local | drug |
| HUGO Gene Symbol local | drug |
| Mendelian diseases | phenotype |
| mis-sense, conservative change local | variant |
| mis-sense, non-conservative change local | variant |
| moderate risk ranking local | phenotype |
| mRNA reference sequences local | drug |
| National Genotyping Center (NGC) local | cohort |
| NCBI | cohort |
| NCBI BLAST local | drug |
| NCBI Reference Sequence (RefSeq) local | drug |
| non-coding SNP local | variant |
| non-sense change local | variant |
| non-synonymous SNP | variant |
| novel promoter polymorphism local | variant |
| novel variant | cohort |
| online sequence databases local | drug |
| premature termination local | phenotype |
| Public SNP databases local | cohort |
| rs ID local | variant |
| sense/synonymous SNP local | variant |
| SNP | cohort |
| SNP500Cancer local | cohort |
| SwissProt | drug |
| SwissProt Entry Name local | drug |
| synonymous SNP local | variant |
| Tabor et al. local | cohort |
| tagSNP | variant |
| therapeutic dosage response local | phenotype |
| UCSC Golden Path local | drug |
| very high-risk ranking local | phenotype |
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| Lack of correlation between in silico projection of function and quantitative real-time PCR-determined gene expression levels in colon tissue. | Penney RB et al. | β | 2013 | β |
| Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease. | Squitti R et al. | β | 2013 | β |
| Molecular markers in sex hormone pathway genes associated with the efficacy of androgen-deprivation therapy for prostate cancer. | Yu CC et al. | β | 2013 | β |
| Mutational analysis of ATP7B in north Chinese patients with Wilson disease. | Li K et al. | β | 2013 | β |
| Mutational analysis of TYR gene and its structural consequences in OCA1A. | K B et al. | β | 2013 | β |
| OPRM1 genetic polymorphisms are associated with the plasma nicotine metabolite cotinine concentration in methadone maintenance patients: a cross sectional study. | Chen YT et al. | β | 2013 | β |
| Pharmacogenomics study in a Taiwan methadone maintenance cohort. | Wang SC et al. | β | 2013 | β |
| Polymorphisms, de novo lipogenesis, and plasma triglyceride response following fish oil supplementation. | Bouchard-Mercier A et al. | β | 2013 | β |
| Polymorphisms in the gene regions of the adaptor complex LAMTOR2/LAMTOR3 and their association with breast cancer risk. | De Araujo ME et al. | β | 2013 | β |
| Polymorphisms in the oligoadenylate synthetase gene cluster and its association with clinical outcomes of dengue virus infection. | Alagarasu K et al. | β | 2013 | β |
| Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy. | Frousios K et al. | β | 2013 | β |
| Promoter polymorphisms in trefoil factor 2 and trefoil factor 3 genes and susceptibility to gastric cancer and atrophic gastritis among Chinese population. | Xu Q et al. | β | 2013 | β |
| Single nucleotide polymorphisms of the angiotensin-converting enzyme (ACE) gene are associated with essential hypertension and increased ACE enzyme levels in Mexican individuals. | MartΓnez-RodrΓguez N et al. | β | 2013 | β |
| Single nucleotide polymorphisms within LIPA (Lysosomal Acid Lipase A) gene are associated with susceptibility to premature coronary artery disease. a replication in the genetic of atherosclerotic disease (GEA) Mexican study. | Vargas-AlarcΓ³n G et al. | β | 2013 | β |
| SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS. | Merelli I et al. | β | 2013 | β |
| Structural investigation of deleterious non-synonymous SNPs of EGFR gene. | Raghav D et al. | β | 2013 | β |
| Survival is associated with genetic variation in inflammatory pathway genes among patients with resected and unresected pancreatic cancer. | Reid-Lombardo KM et al. | β | 2013 | β |
| Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | Shao J et al. | β | 2013 | β |
| The DAO gene is associated with schizophrenia and interacts with other genes in the Taiwan Han Chinese population. | Yang HC et al. | β | 2013 | β |
| The TGF-B1 and IL-10 gene polymorphisms are associated with risk of developing silent myocardial ischemia in the diabetic patients. | Cruz M et al. | β | 2013 | β |
| Towards precision medicine: advances in computational approaches for the analysis of human variants. | Peterson TA et al. | β | 2013 | β |
| VEGFA variants are associated with pre-school lung function, but not neonatal lung function. | Kreiner-MΓΈller E et al. | β | 2013 | β |
| A 14Β bp indel variation in the NCX1 gene modulates the age at onset in late-onset Alzheimer's disease. | Bi XH et al. | β | 2012 | β |
| A common polymorphism in the 5' region of the human protein c gene binds USF1. | Thain KR et al. | β | 2012 | β |
| A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. | Kim HC et al. | β | 2012 | β |
| A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. | Innocenti F et al. | β | 2012 | β |
| A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy. | Biagi DG et al. | β | 2012 | β |
| An evaluation of single nucleotide polymorphisms in the human heat shock protein 90 kDa Ξ± and Ξ² isoforms. | Urban JD et al. | β | 2012 | β |
| A re-review of the association between the NOTCH4 locus and schizophrenia. | Shayevitz C et al. | β | 2012 | β |
| Association of CDX1 binding site of periostin gene with bone mineral density and vertebral fracture risk. | Xiao SM et al. | β | 2012 | β |
| Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients. | Phusantisampan T et al. | β | 2012 | β |
| Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts. | Letra A et al. | β | 2012 | β |
| Association of vitamin D receptor gene polymorphisms with clinical outcomes of dengue virus infection. | Alagarasu K et al. | β | 2012 | β |
| Association study of AGER gene polymorphism and hypertension in Han Chinese population. | Yang S et al. | β | 2012 | β |
| Circadian genes and breast cancer susceptibility in rotating shift workers. | Monsees GM et al. | β | 2012 | β |
| Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. | Magesh R et al. | β | 2012 | β |
| Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. | George Priya Doss C et al. | β | 2012 | β |
| Dectin-1 and DC-SIGN polymorphisms associated with invasive pulmonary Aspergillosis infection. | Sainz J et al. | β | 2012 | β |
| Dietary saturated fat, gender and genetic variation at the TCF7L2 locus predict the development of metabolic syndrome. | Phillips CM et al. | β | 2012 | β |
| DNA repair polymorphisms and treatment outcomes of patients with malignant mesothelioma treated with gemcitabine-platinum combination chemotherapy. | ErΔulj N et al. | β | 2012 | β |
| DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia. | ErΔulj N et al. | β | 2012 | β |
| DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. | Hettinger JA et al. | β | 2012 | β |
| Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide. | Duarte JD et al. | β | 2012 | β |
| Effects of vitamin A and D receptor gene polymorphisms/haplotypes on immune responses to measles vaccine. | Ovsyannikova IG et al. | β | 2012 | β |
| Functional analysis of HapMap SNPs. | Liu CT et al. | β | 2012 | β |
| Functional polymorphisms in SOCS1 and PTPN22 genes correlate with the response to imatinib treatment in newly diagnosed chronic-phase chronic myeloid leukemia. | Guillem V et al. | β | 2012 | β |
| Functional variant in the autophagy-related 5 gene promotor is associated with childhood asthma. | Martin LJ et al. | β | 2012 | β |
| Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients. | van Eerde AM et al. | β | 2012 | β |
| Genetic polymorphisms and protein expression of NRF2 and Sulfiredoxin predict survival outcomes in breast cancer. | Hartikainen JM et al. | β | 2012 | β |
| Genetic polymorphisms in the opioid receptor mu1 gene are associated with changes in libido and insomnia in methadone maintenance patients. | Wang SC et al. | β | 2012 | β |
| Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. | Polimanti R et al. | β | 2012 | β |
| Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database. | Alshatwi AA et al. | β | 2012 | β |
| Impact of common variation in bone-related genes on type 2 diabetes and related traits. | Billings LK et al. | β | 2012 | β |
| In silico study of Alzheimer's disease in relation to FYN gene. | Anbarasu A et al. | β | 2012 | β |
| Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach. | Doss CG et al. | β | 2012 | β |
| Leukotriene B4 receptor locus gene characterisation and association studies in asthma. | Tulah AS et al. | β | 2012 | β |
| Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. | Ozcelik H et al. | β | 2012 | β |
| Positive association of CD36 gene variants with the visual outcome of photodynamic therapy in polypoidal choroidal vasculopathy. | Honda S et al. | β | 2012 | β |
| Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density. | Xiao SM et al. | β | 2012 | β |
| Predicting the impact of deleterious single point mutations in SMAD gene family using structural bioinformatics approach. | George Priya Doss C et al. | β | 2012 | β |
| Prognostic Impact of Polymorphisms in the CASPASE Genes on Survival of Patients with Colorectal Cancer. | Choi JY et al. | β | 2012 | β |
| Rare variants in TMEM132D in a case-control sample for panic disorder. | Quast C et al. | β | 2012 | β |
| regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. | Teng M et al. | β | 2012 | β |
| Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population. | Long QZ et al. | β | 2012 | β |
| Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer. | Lefevre JH et al. | β | 2012 | β |
| Role of SNAP25 explored in eastern Indian attention deficit hyperactivity disorder probands. | Sarkar K et al. | β | 2012 | β |
| Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease. | Masoodi TA et al. | β | 2012 | β |
| Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation. | Masoodi TA et al. | β | 2012 | β |
| Significant role of estrogen and progesterone receptor sequence variants in gallbladder cancer predisposition: a multi-analytical strategy. | Srivastava A et al. | β | 2012 | β |
| Single nucleotide polymorphisms in genes that are common targets of luteotropin and luteolysin in primate corpus luteum: computational exploration. | Suresh PS et al. | β | 2012 | β |
| SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update). | Dayem Ullah AZ et al. | β | 2012 | β |
| Structural stability of human protein tyrosine phosphatase Ο catalytic domain: effect of point mutations. | Pasquo A et al. | β | 2012 | β |
| The association of CD36 variants with polypoidal choroidal vasculopathy compared to typical neovascular age-related macular degeneration. | Bessho H et al. | β | 2012 | β |
| UGT2B7 genetic polymorphisms are associated with the withdrawal symptoms in methadone maintenance patients. | Tian JN et al. | β | 2012 | β |
| A common complement C3 variant is associated with protection against wet age-related macular degeneration in a Japanese population. | Yanagisawa S et al. | β | 2011 | β |
| An evaluation of single nucleotide polymorphisms in the human aryl hydrocarbon receptor-interacting protein (AIP) gene. | Rowlands JC et al. | β | 2011 | β |
| A putative functional variant within the UBAC2 gene is associated with increased risk of BehΓ§et's disease. | Sawalha AH et al. | β | 2011 | β |
| Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders. | Penas-Steinhardt A et al. | β | 2011 | β |
| Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). | Wassel CL et al. | β | 2011 | β |
| Association of SMAD2 polymorphisms with bone mineral density in postmenopausal Korean women. | Kim BJ et al. | β | 2011 | β |
| Association study of RELN polymorphisms with schizophrenia in Han Chinese population. | Li W et al. | β | 2011 | β |
| Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines. | Eng L et al. | β | 2011 | β |
| Bioinformatics-driven identification and examination of candidate genes for non-alcoholic fatty liver disease. | Banasik K et al. | β | 2011 | β |
| Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach. | Singh AA et al. | β | 2011 | β |
| Changes in predicted protein disorder tendency may contribute to disease risk. | Hu Y et al. | β | 2011 | β |
| Clinical significance of runt-related transcription factor 1 polymorphism in prostate cancer. | Huang SP et al. | β | 2011 | β |
| Common CD36 SNPs reduce protein expression and may contribute to a protective atherogenic profile. | Love-Gregory L et al. | β | 2011 | β |
| Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study. | Zhao Q et al. | β | 2011 | β |
| Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. | Kumar V et al. | β | 2011 | β |
| CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate. | Letra A et al. | β | 2011 | β |
| CUBN is a gene locus for albuminuria. | BΓΆger CA et al. | β | 2011 | β |
| CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer. | Wang SC et al. | β | 2011 | β |
| Evaluation of functional genetic variants for breast cancer risk: results from the Shanghai breast cancer study. | Zhang B et al. | β | 2011 | β |
| Gene-gene interaction between CD40 and CD40L reduces bone mineral density and increases osteoporosis risk in women. | Pineda B et al. | β | 2011 | β |
| Gene-nutrient interactions and gender may modulate the association between ApoA1 and ApoB gene polymorphisms and metabolic syndrome risk. | Phillips CM et al. | β | 2011 | β |
| Genetic associations with sporadic neuroendocrine tumor risk. | Ter-Minassian M et al. | β | 2011 | β |
| Genetic polymorphisms in CYP3A4 are associated with withdrawal symptoms and adverse reactions in methadone maintenance patients. | Chen CH et al. | β | 2011 | β |
| Genetic polymorphisms in DNA double-strand break repair genes XRCC5, XRCC6 and susceptibility to hepatocellular carcinoma. | Li R et al. | β | 2011 | β |
| Genetic variation in VEGF family genes and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study. | Beeghly-Fadiel A et al. | β | 2011 | β |
| Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. | Kumar V et al. | β | 2011 | β |
| Genome-wide association study implicates PARD3B-based AIDS restriction. | Troyer JL et al. | β | 2011 | β |
| Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD. | Ross J et al. | β | 2011 | β |
| Haplotype analysis improved evidence for candidate genes for intramuscular fat percentage from a genome wide association study of cattle. | Barendse W | β | 2011 | β |
| Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-1. | Torekov SS et al. | β | 2011 | β |
| ICSNPathway: identify candidate causal SNPs and pathways from genome-wide association study by one analytical framework. | Zhang K et al. | β | 2011 | β |
| Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR). | Tram E et al. | β | 2011 | β |
| IgE responsiveness to Dermatophagoides farinae in West Highland white terrier dogs is associated with region on CFA35. | Roque JB et al. | β | 2011 | β |
| Inherited variants in mitochondrial biogenesis genes may influence epithelial ovarian cancer risk. | Permuth-Wey J et al. | β | 2011 | β |
| Interactions between genetic polymorphisms in the apoptotic pathway and environmental factors on esophageal adenocarcinoma risk. | Wu IC et al. | β | 2011 | β |
| LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. | Permuth-Wey J et al. | β | 2011 | β |
| Meet me halfway: when genomics meets structural bioinformatics. | Gong S et al. | β | 2011 | β |
| Molecular genetic approaches for identifying the basis of variation in resistance to tick infestation in cattle. | Porto Neto LR et al. | β | 2011 | β |
| Novel functional germline variants in the VEGF receptor 2 gene and their effect on gene expression and microvessel density in lung cancer. | Glubb DM et al. | β | 2011 | β |
| Pathogenesis of alcohol-induced liver disease: classical concepts and recent advances. | Seth D et al. | β | 2011 | β |
| Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. | B R et al. | β | 2011 | β |
| Peripheral blood monocyte-expressed ANXA2 gene is involved in pathogenesis of osteoporosis in humans. | Deng FY et al. | β | 2011 | β |
| Polymorphisms in apoptosis-related genes and TP53 mutations in non-small cell lung cancer. | Bae EY et al. | β | 2011 | β |
| Polymorphisms in genes coding for GRK2 and GRK5 and response differences in antihypertensive-treated patients. | Lobmeyer MT et al. | β | 2011 | β |
| Polymorphisms in nucleotide excision repair genes and endometrial cancer risk. | Doherty JA et al. | β | 2011 | β |
| Polymorphisms of VEGFA gene and susceptibility to hemorrhage risk of brain arteriovenous malformations in a Chinese population. | Gong ZP et al. | β | 2011 | β |
| Possible association between polymorphisms of human vascular endothelial growth factor A gene and susceptibility to glioma in a Chinese population. | Li R et al. | β | 2011 | β |
| PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers. | Roque JB et al. | β | 2011 | β |
| RIPK1 and CASP7 polymorphism as prognostic markers for survival in patients with colorectal cancer after complete resection. | Chae YS et al. | β | 2011 | β |
| Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS. | Le Clerc S et al. | β | 2011 | β |
| Single nucleotide polymorphisms in the human aryl hydrocarbon receptor nuclear translocator (ARNT) gene. | Urban JD et al. | β | 2011 | β |
| The ApoE gene of Alzheimer's disease (AD). | Namboori PK et al. | β | 2011 | β |
| The influence of genetic polymorphisms and interacting drugs on initial response to warfarin in Chinese patients with heart valve replacement. | Zhong SL et al. | β | 2011 | β |
| The TNP1 haplotype - GCG is associated with azoospermia. | Khattri A et al. | β | 2011 | β |
| TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. | van der Zee J et al. | β | 2011 | β |
| VARS2 V552V variant as prognostic marker in patients with early breast cancer. | Chae YS et al. | β | 2011 | β |
| Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery. | Stothard P et al. | β | 2011 | β |
| A common variant in the adiponutrin gene influences liver enzyme values. | Kollerits B et al. | β | 2010 | β |
| A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene. | de Alencar SA et al. | β | 2010 | β |
| Additive effect of polymorphisms in the IL-6, LTA, and TNF-{alpha} genes and plasma fatty acid level modulate risk for the metabolic syndrome and its components. | Phillips CM et al. | β | 2010 | β |
| ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir. | Lubomirov R et al. | β | 2010 | β |
| Advances in translational bioinformatics: computational approaches for the hunting of disease genes. | Kann MG | β | 2010 | β |
| A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass. | Tan L et al. | β | 2010 | β |
| A Large-scale genetic association study of esophageal adenocarcinoma risk. | Liu CY et al. | β | 2010 | β |
| An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia. | Davis CF et al. | β | 2010 | β |
| An improved in silico selection of phenotype affecting polymorphisms in SLC6A4, HTR1A and HTR2A genes. | Piva F et al. | β | 2010 | β |
| Application of genetic/genomic approaches to allergic disorders. | Baye TM et al. | β | 2010 | β |
| Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry. | Miljkovic I et al. | β | 2010 | β |
| Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. | Kung AW et al. | β | 2010 | β |
| Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population. | Haq I et al. | β | 2010 | β |
| Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women. | Hwang JY et al. | β | 2010 | β |
| CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage. | Hubal MJ et al. | β | 2010 | β |
| Clinical significance of tumor necrosis factor receptor superfamily member 11b polymorphism in prostate cancer. | Bao BY et al. | β | 2010 | β |
| CYP1A2 genetic polymorphisms are associated with treatment response to the antidepressant paroxetine. | Lin KM et al. | β | 2010 | β |
| Differential allelic distribution of V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2) functional polymorphisms in different group of patients. | Chatterjee A et al. | β | 2010 | β |
| Estrogen receptor alpha polymorphisms and the risk of malignancies. | Anghel A et al. | β | 2010 | β |
| Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. | Tang W et al. | β | 2010 | β |
| Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study. | Engelman CD et al. | β | 2010 | β |
| Identification of novel SNPs by next-generation sequencing of the genomic region containing the APC gene in colorectal cancer patients in China. | Cheng Y et al. | β | 2010 | β |
| Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox. | Coassin S et al. | β | 2010 | β |
| MGMT -535G>T polymorphism is associated with prognosis for patients with metastatic colorectal cancer treated with oxaliplatin-based chemotherapy. | Park JH et al. | β | 2010 | β |
| MMP-9 gene variants increase the risk for non-atopic asthma in children. | Pinto LA et al. | β | 2010 | β |
| Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. | Hijikata A et al. | β | 2010 | β |
| Patatin-like phospholipase domain containing 3: a case in point linking genetic susceptibility for alcoholic and nonalcoholic liver disease. | Seth D et al. | β | 2010 | β |
| Polymorphisms in apoptosis-related genes and survival of patients with early-stage non-small-cell lung cancer. | Lee EB et al. | β | 2010 | β |
| Polymorphisms in inflammatory pathway genes and their association with colorectal cancer risk. | Frank B et al. | β | 2010 | β |
| Polymorphisms in the vitamin A receptor and innate immunity genes influence the antibody response to rubella vaccination. | Ovsyannikova IG et al. | β | 2010 | β |
| Prioritization of candidate SNPs in colon cancer using bioinformatics tools: an alternative approach for a cancer biologist. | George Priya Doss C et al. | β | 2010 | β |
| SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study. | Saccone SF et al. | β | 2010 | β |
| The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population. | Fei Q et al. | β | 2010 | β |
| The associations of LPIN1 gene expression in adipose tissue with metabolic phenotypes in the Chinese population. | Chang YC et al. | β | 2010 | β |
| TNF superfamily gene polymorphism as prognostic factor in early breast cancer. | Jung JH et al. | β | 2010 | β |
| Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts. | Chen YC et al. | β | 2010 | β |
| An integrative scoring system for ranking SNPs by their potential deleterious effects. | Lee PH et al. | β | 2009 | β |
| A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. | Sookoian S et al. | β | 2009 | β |
| Association analysis of WNT10B with bone mass and structure among individuals of African ancestry. | Zmuda JM et al. | β | 2009 | β |
| Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men. | Miljkovic I et al. | β | 2009 | β |
| Common genetic variation and the control of HIV-1 in humans. | Fellay J et al. | β | 2009 | β |
| Common genetic variations of the cytochrome P450 1A1 gene and risk of hepatocellular carcinoma in a Chinese population. | Li R et al. | β | 2009 | β |
| Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome. | Phillips CM et al. | β | 2009 | β |
| Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population. | Shen C et al. | β | 2009 | β |
| Estrogen receptor beta gene mutations in Indian infertile men. | Khattri A et al. | β | 2009 | β |
| Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins. | Kollerits B et al. | β | 2009 | β |
| Genetic variants in GTF2H1 and risk of lung cancer: a case-control analysis in a Chinese population. | Wu W et al. | β | 2009 | β |
| Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche. | Liu YZ et al. | β | 2009 | β |
| Genome-wide association analyses suggested a novel mechanism for smoking behavior regulated by IL15. | Liu YZ et al. | β | 2009 | β |
| Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. | Xiong DH et al. | β | 2009 | β |
| Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. | Lei SF et al. | β | 2009 | β |
| Genomewide association studies of stroke. | Ikram MA et al. | β | 2009 | β |
| Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. | Lei SF et al. | β | 2009 | β |
| Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. | Chioza BA et al. | β | 2009 | β |
| Genomic and geographic distribution of private SNPs and pathways in human populations. | Baye TM et al. | β | 2009 | β |
| Genomics software: The view from 10,000 feet. | Weale ME | β | 2009 | β |
| High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. | Yerges LM et al. | β | 2009 | β |
| Host genetics, steatosis and insulin resistance among African Americans and Caucasian Americans with hepatitis C virus genotype-1 infection. | Iuliano AD et al. | β | 2009 | β |
| HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia. | Hwang JY et al. | β | 2009 | β |
| Identification of genetic variants in the human indoleamine 2,3-dioxygenase (IDO1) gene, which have altered enzyme activity. | Arefayene M et al. | β | 2009 | β |
| Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing. | Everett KV et al. | β | 2009 | β |
| Next generation tools for the annotation of human SNPs. | Karchin R | β | 2009 | β |
| Positive association of common variants in CD36 with neovascular age-related macular degeneration. | Kondo N et al. | β | 2009 | β |
| Predicting potentially functional SNPs in drug-response genes. | Pang GS et al. | β | 2009 | β |
| SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. | Xu Z et al. | β | 2009 | β |
| A novel computational and structural analysis of nsSNPs in CFTR gene. | George Priya Doss C et al. | β | 2008 | β |
| Applications of computational algorithm tools to identify functional SNPs. | George Priya Doss C et al. | β | 2008 | β |
| Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population. | Rouskas K et al. | β | 2008 | β |
| Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer. | Sellers TA et al. | β | 2008 | β |
| Combined functional and positional gene information for the identification of susceptibility variants in celiac disease. | Castellanos-Rubio A et al. | β | 2008 | β |
| Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population. | Chang YC et al. | β | 2008 | β |
| Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians. | Yang TL et al. | β | 2008 | β |
| Functional analysis of novel SNPs and mutations in human and mouse genomes. | Liu CK et al. | β | 2008 | β |
| Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes. | Hu CA et al. | β | 2008 | β |
| Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women. | Riancho JA et al. | β | 2008 | β |
| Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. | Liu YJ et al. | β | 2008 | β |
| Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study. | Liu YZ et al. | β | 2008 | β |
| In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma. | Rajasekaran R et al. | β | 2008 | β |
| In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs). | Sudandiradoss C et al. | β | 2008 | β |
| Molecular and in silico analysis of BRCA1 and BRCA2 variants. | Tommasi S et al. | β | 2008 | β |
| Pharmacogenetics of anti-HIV drugs. | Telenti A et al. | β | 2008 | β |
| Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. | Skibola CF et al. | β | 2008 | β |
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. | Yuan X et al. | β | 2008 | β |
| STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians. | Palomino-Morales RJ et al. | β | 2008 | β |
| Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence. | Saccone SF et al. | β | 2008 | β |
| Toll-like receptor heterodimer variants protect from childhood asthma. | Kormann MS et al. | β | 2008 | β |
| Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. | Love-Gregory L et al. | β | 2008 | β |
| ADME pathway approach for pharmacogenetic studies of anti-HIV therapy. | Lubomirov R et al. | β | 2007 | β |
| Association between CFL1 gene polymorphisms and spina bifida risk in a California population. | Zhu H et al. | β | 2007 | β |
| Detection of the inferred interaction network in hepatocellular carcinoma from EHCO (Encyclopedia of Hepatocellular Carcinoma genes Online). | Hsu CN et al. | β | 2007 | β |
| Identification and in silico analysis of functional SNPs of the BRCA1 gene. | Rajasekaran R et al. | β | 2007 | β |
| NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. | Arning L et al. | β | 2007 | β |
| Selection of genes and single nucleotide polymorphisms for fine mapping starting from a broad linkage region. | Windelinckx A et al. | β | 2007 | β |
| Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels. | Akkad DA et al. | β | 2007 | β |