SNPs3D: candidate gene and SNP selection for association studies.
paper
Cited
Public
- Authors
- Yue, Peng; Melamud, Eugene; Moult, John
- Year
- 2006
- Journal
- BMC bioinformatics
- PMID
- 16551372
- DOI
- 10.1186/1471-2105-7-166
- PMCID
- PMC1435944
BACKGROUND: The relationship between disease susceptibility and genetic variation is complex, and many different types of data are relevant. We describe a web resource and database that provides and integrates as much information as possible on disease/gene relationships at the molecular level. DESCRIPTION: The resource http://www.SNPs3D.org has three primary modules. One module identifies which genes are candidates for involvement in a specified disease. A second module provides information about the relationships between sets of candidate genes. The third module analyzes the likely impact of non-synonymous SNPs on protein function. Disease/candidate gene relationships and gene-gene relationships are derived from the literature using simple but effective text profiling. SNP/protein function relationships are derived by two methods, one using principles of protein structure and stability, the other based on sequence conservation. Entries for each gene include a number of links to other data, such as expression profiles, pathway context, mouse knockout information and papers. Gene-gene interactions are presented in an interactive graphical interface, providing rapid access to the underlying information, as well as convenient navigation through the network. Use of the resource is illustrated with aspects of the inflammatory response and hypertension. CONCLUSION: The combination of SNP impact analysis, a knowledge based network of gene relationships and candidate genes, and access to a wide range of data and literature allow a user to quickly assimilate available information, and so develop models of gene-pathway-disease interaction.
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| Name | Type |
|---|---|
| ACE | gene |
| ACE I444T local | variant |
| ADNDI local | phenotype |
| ADRB2 | gene |
| AGT | gene |
| Alzheimer's disease | phenotype |
| APOC2 local | gene |
| APOC4 | gene |
| associated papers local | drug |
| asthma | phenotype |
| atherosclerosis | phenotype |
| Autosomal dominant familial neurohypophyseal diabetes insipidus local | phenotype |
| AVP | drug |
| blood pressure | phenotype |
| blood pressure related disease local | phenotype |
| BMPR2 local | gene |
| bradykinin local | drug |
| Bradykinin local | drug |
| breast cancer | phenotype |
| C130W local | variant |
| cancer | phenotype |
| candidate genes | cohort |
| CMA1 local | gene |
| CMA1 H66R local | variant |
| CMA1 upstream SNP local | variant |
| complex diseases | phenotype |
| Complex disease traits local | phenotype |
| complex trait disease local | phenotype |
| cystic fibrosis | phenotype |
| D local | phenotype |
| dbSNP | cohort |
| dbSNP ID local | variant |
| deafness | phenotype |
| disease | phenotype |
| disease susceptibility | phenotype |
| EDN1 local | gene |
| Entrez Gene ID local | gene |
| epilepsy | phenotype |
| essential hypertension local | phenotype |
| FOLD-X local | drug |
| G179R local | variant |
| GALR1 | gene |
| gene | gene |
| genes | gene |
| Genes and Disease local | drug |
| Genetic Association Database local | drug |
| glycolysis | drug |
| HDL cholesterol | phenotype |
| HGMD database local | cohort |
| human genes | gene |
| human kallikrein family local | gene |
| human SNPs local | variant |
| hypertension | phenotype |
| hypertensive complications local | phenotype |
| hypotension | phenotype |
| inflammation | phenotype |
| inflammation related disease local | phenotype |
| inflammatory response | phenotype |
| infrarenal arterial vessel thickening local | phenotype |
| infrarenal arterial vessel widening local | phenotype |
| KEGG pathway local | drug |
| kidney obstruction local | phenotype |
| KLK1 local | gene |
| KLK1 V193E local | variant |
| lung cancer | phenotype |
| Medline references local | cohort |
| mild phenotype local | phenotype |
| monogenic disease local | phenotype |
| Monogenic disease local | phenotype |
| Monogenic disease gene local | gene |
| monogenic-type hypertension local | phenotype |
| Mouse knockout local | phenotype |
| MutDB local | drug |
| NCBI Gene database local | cohort |
| non-synonymous SNP | variant |
| NPPA local | gene |
| NPPB local | gene |
| NPPC local | gene |
| nsSNP | variant |
| obesity | phenotype |
| other SNPs local | variant |
| PAH | gene |
| phenotype | phenotype |
| phenylketonuria | phenotype |
| polydipsia local | phenotype |
| Polydipsia local | phenotype |
| Polyphen2 | drug |
| pre-complied diseases local | phenotype |
| protein function | phenotype |
| pulmonary hypertension local | phenotype |
| reference gene local | gene |
| Refseq ID local | gene |
| REN local | gene |
| REN R333W local | variant |
| SAAP local | drug |
| schizophrenia | phenotype |
| SELE local | gene |
| SELE C130W local | variant |
| SELE deleterious SNP local | variant |
| SELL local | gene |
| SELP local | gene |
| SELP deleterious SNP local | variant |
| SELP G179R local | variant |
| sequence homology local | drug |
| set 76 diseases local | phenotype |
| severe phenotype local | phenotype |
| SIFT | drug |
| single base variant local | variant |
| single nucleotide polymorphism | variant |
| SNP | cohort |
| SNPeffect local | drug |
| SNPs3D local | drug |
| strongest linked gene local | gene |
| subnormal blood pressure local | phenotype |
| TopoSNP local | drug |
| TP53 | gene |
| VCAM1 local | gene |
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| AFFIPred: AlphaFold2 structure-based Functional Impact Prediction of missense variations. | Pir MS et al. | β | 2025 | β |
| <i>TNFRSF1B</i> Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma. | Carvalho BF et al. | β | 2024 | β |
| Molecular Mechanisms Involved in the B Cell Growth and Clonogenic Activity of HIV-1 Matrix Protein p17 Variants. | D'Ursi P et al. | β | 2024 | β |
| Predicting hotspots for disease-causing single nucleotide variants using sequences-based coevolution, network analysis, and machine learning. | Zheng W | β | 2024 | β |
| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors. | Lin YJ et al. | β | 2024 | β |
| Computational approaches for predicting variant impact: An overview from resources, principles to applications. | Liu Y et al. | β | 2022 | β |
| d-StructMAn: Containerized structural annotation on the scale from genetic variants to whole proteomes. | Gress A et al. | β | 2022 | β |
| Genome interpretation using in silico predictors of variant impact. | Katsonis P et al. | β | 2022 | β |
| Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece. | Hadjipanagi D et al. | β | 2022 | β |
| PSnpBind: a database of mutated binding site protein-ligand complexes constructed using a multithreaded virtual screening workflow. | Ammar A et al. | β | 2022 | β |
| Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1. | Tamhankar PM et al. | β | 2021 | β |
| <i>In Silico</i> Tools and Approaches for the Prediction of Functional and Structural Effects of Single-Nucleotide Polymorphisms on Proteins: An Expert Review. | Yazar M et al. | β | 2021 | β |
| Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when. | Galano-Frutos JJ et al. | β | 2021 | β |
| PolyBoost: An enhanced genomic variant classifier using extreme gradient boosting. | Parente DJ | β | 2021 | β |
| Structure-Guided Computational Approaches to Unravel Druggable Proteomic Landscape of <i>Mycobacterium leprae</i>. | Vedithi SC et al. | β | 2021 | β |
| Annotation and curation of human genomic variations: an ELIXIR Implementation Study | David A et al. | β | 2020 | β |
| Gene Prioritization through Consensus Strategy, Enrichment Methodologies Analysis, and Networking for Osteosarcoma Pathogenesis. | Cabrera-Andrade A et al. | β | 2020 | β |
| Pred-MutHTP: Prediction of disease-causing and neutral mutations in human transmembrane proteins. | Kulandaisamy A et al. | β | 2020 | β |
| Rhapsody: predicting the pathogenicity of human missense variants. | Ponzoni L et al. | β | 2020 | β |
| Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer. | Singh AK et al. | β | 2020 | β |
| The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study. | Wu PH et al. | β | 2020 | β |
| Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated? | Ittisoponpisan S et al. | β | 2019 | β |
| Genetic diversity, functional properties and expression analysis of <i>NnSBE</i> genes involved in starch synthesis of lotus (<i>Nelumbo nucifera</i> Gaertn.). | Zhu F et al. | β | 2019 | β |
| Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. | Blanco-Vaca F et al. | β | 2019 | β |
| A meta-analysis of associations of LEPR Q223R and K109R polymorphisms with Type 2 diabetes risk. | Yang Y et al. | β | 2018 | β |
| Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes. | Jin Y et al. | β | 2018 | β |
| Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting. | MartΓn-Campos JM et al. | β | 2018 | β |
| Characterizing key nucleotide polymorphisms of hepatitis C virus-disease associations via mass-spectrometric genotyping. | Horiuchi Y et al. | β | 2018 | β |
| Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities. | Chiocchetti AG et al. | β | 2018 | β |
| Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data. | Zhou Y et al. | β | 2018 | β |
| Gene prioritization, communality analysis, networking and metabolic integrated pathway to better understand breast cancer pathogenesis. | LΓ³pez-CortΓ©s A et al. | β | 2018 | β |
| Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling. | Suryavanshi SV et al. | β | 2018 | β |
| ILDgenDB: integrated genetic knowledge resource for interstitial lung diseases (ILDs). | Mishra S et al. | β | 2018 | β |
| Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. | Yousaf R et al. | β | 2018 | β |
| Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. | Alonso N et al. | β | 2018 | β |
| Pathway-based analysis of genome-wide association study of circadian phenotypes. | Zhu DD et al. | β | 2018 | β |
| Structural Principles Governing Disease-Causing Germline Mutations. | Dobson L et al. | β | 2018 | β |
| Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. | Li M et al. | β | 2017 | β |
| Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I. | Zhang J et al. | β | 2017 | β |
| CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. | Pal LR et al. | β | 2017 | β |
| CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. | Pal LR et al. | β | 2017 | β |
| Computational prediction of the phenotypic effects of genetic variants: basic concepts and some application examples in Drosophila nervous system genes. | SΓ‘nchez-Gracia A et al. | β | 2017 | β |
| Computational Screening and Exploration of Disease-Associated Genes in Alzheimer's Disease. | Jamal S et al. | β | 2017 | β |
| Consensus strategy in genes prioritization and combined bioinformatics analysis for preeclampsia pathogenesis. | Tejera E et al. | β | 2017 | β |
| Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. | Kundu K et al. | β | 2017 | β |
| Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family. | Ren M et al. | β | 2017 | β |
| Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. | Papazachariou L et al. | β | 2017 | β |
| Identification of polymorphisms in cancer patients that differentially affect survival with age. | Doherty A et al. | β | 2017 | β |
| Identification of susceptible genes for complex chronic diseases based on disease risk functional SNPs and interaction networks. | Li W et al. | β | 2017 | β |
| Impact of genetic variation on three dimensional structure and function of proteins. | Bhattacharya R et al. | β | 2017 | β |
| Integrative multi-omics analysis revealed SNP-lncRNA-mRNA (SLM) networks in human peripheral blood mononuclear cells. | Xia W et al. | β | 2017 | β |
| KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment. | Song J et al. | β | 2017 | β |
| Lessons from the CAGI-4 Hopkins clinical panel challenge. | Chandonia JM et al. | β | 2017 | β |
| Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. | Cai B et al. | β | 2017 | β |
| Mutations at protein-protein interfaces: Small changes over big surfaces have large impacts on human health. | Jubb HC et al. | β | 2017 | β |
| PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. | LΓ³pez-Ferrando V et al. | β | 2017 | β |
| Prediction of a highly deleterious mutation E17K in AKT-1 gene: An <i>in silico</i> approach. | Khan I et al. | β | 2017 | β |
| Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response. | Kozyra M et al. | β | 2017 | β |
| Resources for Interpreting Variants in Precision Genomic Oncology Applications. | Tsang H et al. | β | 2017 | β |
| Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. | Brown DK et al. | β | 2017 | β |
| Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes. | Gress A et al. | β | 2017 | β |
| Association between Genetic Variants in DNA Double-Strand Break Repair Pathways and Risk of Radiation Therapy-Induced Pneumonitis and Esophagitis in Non-Small Cell Lung Cancer. | Zhao L et al. | β | 2016 | β |
| Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans. | Minervini G et al. | β | 2016 | β |
| Computational approaches for predicting mutant protein stability. | Kulshreshtha S et al. | β | 2016 | β |
| In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses. | Banerjee S et al. | β | 2016 | β |
| In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genes. | Taqi MM et al. | β | 2016 | β |
| KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily. | Pons T et al. | β | 2016 | β |
| Polymorphisms within base and nucleotide excision repair pathways and risk of differentiated thyroid carcinoma. | Cipollini M et al. | β | 2016 | β |
| Protein-structure-guided discovery of functional mutations across 19 cancer types. | Niu B et al. | β | 2016 | β |
| StructMAn: annotation of single-nucleotide polymorphisms in the structural context. | Gress A et al. | β | 2016 | β |
| The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants. | Al-Numair NS et al. | β | 2016 | β |
| Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. | Tang H et al. | β | 2016 | β |
| Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants. | Masica DL et al. | β | 2016 | β |
| Analysis of genetic variation and potential applications in genome-scale metabolic modeling. | Cardoso JG et al. | β | 2015 | β |
| A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. | Wang Q et al. | β | 2015 | β |
| Association Between a Variant in ADAMTS5 and the Susceptibility to Hepatocellular Carcinoma in a Chinese Han Population. | Li C et al. | β | 2015 | β |
| Bioinformatics tools for discovery and functional analysis of single nucleotide polymorphisms. | Li L et al. | β | 2015 | β |
| Chronic cardiovascular disease-associated gene network analysis in human umbilical vein endothelial cells exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin. | Yu Y et al. | β | 2015 | β |
| Computational approaches to study the effects of small genomic variations. | Khafizov K et al. | β | 2015 | β |
| Computational study of missense mutations in phenylalanine hydroxylase. | RΓ©blovΓ‘ K et al. | β | 2015 | β |
| Conformational dynamics of nonsynonymous variants at protein interfaces reveals disease association. | Butler BM et al. | β | 2015 | β |
| Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing. | Simon MM et al. | β | 2015 | β |
| DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. | Ohi K et al. | β | 2015 | β |
| Evaluation of Oxidative Stress Response Related Genetic Variants, Pro-oxidants, Antioxidants and Prostate Cancer. | Lavender N et al. | β | 2015 | β |
| Genetics of Plasminogen Activator Inhibitor-1 (PAI-1) in a Ghanaian Population. | White MJ et al. | β | 2015 | β |
| Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. | Shaikh RS et al. | β | 2015 | β |
| Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. | Erzurumluoglu AM et al. | β | 2015 | β |
| Insights into the proline hydroxylase (PHD) family, molecular evolution and its impact on human health. | Minervini G et al. | β | 2015 | β |
| ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. | Al-Hassnan ZN et al. | β | 2015 | β |
| On human disease-causing amino acid variants: statistical study of sequence and structural patterns. | Petukh M et al. | β | 2015 | β |
| Pan-Cancer Analysis of Mutation Hotspots in Protein Domains. | Miller ML et al. | β | 2015 | β |
| Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy. | Mueller SC et al. | β | 2015 | β |
| Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. | Yang H et al. | β | 2015 | β |
| Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene. | Hepp D et al. | β | 2015 | β |
| Revealing the Strong Functional Association of adipor2 and cdh13 with adipoq: A Gene Network Study. | Bag S et al. | β | 2015 | β |
| SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures. | Wang D et al. | β | 2015 | β |
| Structure-PPi: a module for the annotation of cancer-related single-nucleotide variants at protein-protein interfaces. | VΓ‘zquez M et al. | β | 2015 | β |
| Variability in pathogenicity prediction programs: impact on clinical diagnostics. | Walters-Sen LC et al. | β | 2015 | β |
| A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required. | Dering C et al. | β | 2014 | β |
| AMASS: a database for investigating protein structures. | Mielke CJ et al. | β | 2014 | β |
| A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease. | Rungroj N et al. | β | 2014 | β |
| BRDT gene sequence in human testicular pathologies and the implication of its single nucleotide polymorphism (rs3088232) on fertility. | Barda S et al. | β | 2014 | β |
| CKM and LILRB5 are associated with serum levels of creatine kinase. | DubΓ© MP et al. | β | 2014 | β |
| Combinatorial therapy discovery using mixed integer linear programming. | Pang K et al. | β | 2014 | β |
| Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics. | Kucukkal TG et al. | β | 2014 | β |
| Computational identification and analysis of functional polymorphisms involved in the activation and detoxification genes implicated in endometriosis. | Panda R et al. | β | 2014 | β |
| Concordant integrative gene set enrichment analysis of multiple large-scale two-sample expression data sets. | Lai Y et al. | β | 2014 | β |
| Feature-based multiple models improve classification of mutation-induced stability changes. | Folkman L et al. | β | 2014 | β |
| Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing. | Papazachariou L et al. | β | 2014 | β |
| Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis. | Rosentul DC et al. | β | 2014 | β |
| Genetic variation in the prostaglandin E2 pathway is associated with primary graft dysfunction. | Diamond JM et al. | β | 2014 | β |
| How to get the most from microarray data: advice from reverse genomics. | Gorlov IP et al. | β | 2014 | β |
| Identifying driver mutations from sequencing data of heterogeneous tumors in the era of personalized genome sequencing. | Zhang J et al. | β | 2014 | β |
| Inherited variation in the PARP1 gene and survival from melanoma. | Davies JR et al. | β | 2014 | β |
| Interplay between chaperones and protein disorder promotes the evolution of protein networks. | Pechmann S et al. | β | 2014 | β |
| MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. | Mort M et al. | β | 2014 | β |
| Pathway analysis of genome-wide association study on serum prostate-specific antigen levels. | Ge YZ et al. | β | 2014 | β |
| Performance of protein disorder prediction programs on amino acid substitutions. | Ali H et al. | β | 2014 | β |
| Prediction and prioritization of rare oncogenic mutations in the cancer Kinome using novel features and multiple classifiers. | U M et al. | β | 2014 | β |
| Single nucleotide variations: biological impact and theoretical interpretation. | Katsonis P et al. | β | 2014 | β |
| SNPdryad: predicting deleterious non-synonymous human SNPs using only orthologous protein sequences. | Wong KC et al. | β | 2014 | β |
| Text mining in cancer gene and pathway prioritization. | Luo Y et al. | β | 2014 | β |
| The road from next-generation sequencing to personalized medicine. | Gonzalez-Garay ML | β | 2014 | β |
| Towards sequence-based prediction of mutation-induced stability changes in unseen non-homologous proteins. | Folkman L et al. | β | 2014 | β |
| Advances in molecular modeling of human cytochrome P450 polymorphism. | Martiny VY et al. | β | 2013 | β |
| An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. | Jaworek TJ et al. | β | 2013 | β |
| Candidate gene association studies: a comprehensive guide to useful in silico tools. | Patnala R et al. | β | 2013 | β |
| Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients. | Chen J et al. | β | 2013 | β |
| Chapter 15: disease gene prioritization. | Bromberg Y | β | 2013 | β |
| Complementation test of Rpe65 knockout and tvrm148. | Wright CB et al. | β | 2013 | β |
| Computational study of ADD1 gene polymorphism associated with hypertension. | Kundu A et al. | β | 2013 | β |
| Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools. | Castellana S et al. | β | 2013 | β |
| Detection and interpretation of genomic structural variation in health and disease. | Vandeweyer G et al. | β | 2013 | β |
| Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data. | Bryzgalov LO et al. | β | 2013 | β |
| Effect of EME1 exon variant Ile350Thr on risk and early onset of breast cancer in southern Chinese women. | Zhao J et al. | β | 2013 | β |
| Exploration of deleterious single nucleotide polymorphisms in late-onset Alzheimer disease susceptibility genes. | Masoodi TA et al. | β | 2013 | β |
| Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. | Shahzad M et al. | β | 2013 | β |
| Genetics is a major determinant of expression of the human hepatic uptake transporter OATP1B1, but not of OATP1B3 and OATP2B1. | Nies AT et al. | β | 2013 | β |
| Genome-wide SNP genotyping to infer the effects on gene functions in tomato. | Hirakawa H et al. | β | 2013 | β |
| High-resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to Non-Hodgkin's lymphoma. | Aya-Bonilla C et al. | β | 2013 | β |
| Human thromboxane A2 receptor genetic variants: in silico, in vitro and "in platelet" analysis. | Gleim S et al. | β | 2013 | β |
| Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. | RΓ©blovΓ‘ K et al. | β | 2013 | β |
| Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia. | Kaya N et al. | β | 2013 | β |
| Knowledge discovery in variant databases using inductive logic programming. | Nguyen H et al. | β | 2013 | β |
| Leucine to proline substitution by SNP at position 197 in Caspase-9 gene expression leads to neuroblastoma: a bioinformatics analysis. | Kundu A et al. | β | 2013 | β |
| MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures. | Niknafs N 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 |
| Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP. | Johansen MB et al. | β | 2013 | β |
| Residue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes. | Studer RA et al. | β | 2013 | β |
| RPGR mutations might cause reduced orientation of respiratory cilia. | Bukowy-BieryΕΕo Z et al. | β | 2013 | β |
| The role of balanced training and testing data sets for binary classifiers in bioinformatics. | Wei Q et al. | β | 2013 | β |
| The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations. | Al-Numair NS et al. | β | 2013 | β |
| T-HOD: a literature-based candidate gene database for hypertension, obesity and diabetes. | Dai HJ et al. | β | 2013 | β |
| Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | Carvalho DR et al. | β | 2012 | β |
| Analyzing effects of naturally occurring missense mutations. | Zhang Z et al. | β | 2012 | β |
| Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-GuΓ©rin. | Wei H et al. | β | 2012 | β |
| Beyond comparing means: the usefulness of analyzing interindividual variation in gene expression for identifying genes associated with cancer development. | Gorlov IP et al. | β | 2012 | β |
| Bioinformatics for personal genome interpretation. | Capriotti E et al. | β | 2012 | β |
| Building a statistical model for predicting cancer genes. | Gorlov IP et al. | β | 2012 | β |
| Candidate gene prioritization. | Masoudi-Nejad A et al. | β | 2012 | β |
| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. | Bello L et al. | β | 2012 | β |
| Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. | Iyer H 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 |
| Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation. | Nakagome S et al. | β | 2012 | β |
| Derived SNP alleles are used more frequently than ancestral alleles as risk-associated variants in common human diseases. | Gorlova OY et al. | β | 2012 | β |
| Disease mutations in disordered regions--exception to the rule? | Vacic V et al. | β | 2012 | β |
| Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies. | Masoodi TA et al. | β | 2012 | β |
| GPSy: a cross-species gene prioritization system for conserved biological processes--application in male gamete development. | Britto R et al. | β | 2012 | β |
| Hansa: an automated method for discriminating disease and neutral human nsSNPs. | Acharya V et al. | β | 2012 | β |
| HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. | Ward LD et al. | β | 2012 | β |
| Heuristic methods for finding pathogenic variants in gene coding sequences. | Ohanian M et al. | β | 2012 | β |
| Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. | Gonzalez-Perez A et al. | β | 2012 | β |
| Incorporating molecular and functional context into the analysis and prioritization of human variants associated with cancer. | Peterson TA et al. | β | 2012 | β |
| Incorporating prior biologic information for high-dimensional rare variant association studies. | Quintana MA et al. | β | 2012 | β |
| Interpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining. | Izarzugaza JM et al. | β | 2012 | β |
| Interpreting noncoding genetic variation in complex traits and human disease. | Ward LD et al. | β | 2012 | β |
| Investigating protein variants using structural calculation techniques. | Carlsson J 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 |
| KB-Rank: efficient protein structure and functional annotation identification via text query. | Julfayev ES et al. | β | 2012 | β |
| KD4v: Comprehensible Knowledge Discovery System for Missense Variant. | Luu TD et al. | β | 2012 | β |
| Knowledge building insights on biomarkers of arsenic toxicity to keratinocytes and melanocytes. | Isokpehi RD et al. | β | 2012 | β |
| Learning generative models of molecular dynamics. | Razavian NS et al. | β | 2012 | β |
| Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. | Jaworek TJ et al. | β | 2012 | β |
| MSV3d: database of human MisSense Variants mapped to 3D protein structure. | Luu TD et al. | β | 2012 | β |
| On the effect of protein conformation diversity in discriminating among neutral and disease related single amino acid substitutions. | Juritz E et al. | β | 2012 | β |
| Predicting folding free energy changes upon single point mutations. | Zhang Z et al. | β | 2012 | β |
| Prioritization of pathogenic mutations in the protein kinase superfamily. | Izarzugaza JM et al. | β | 2012 | β |
| Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs. | David A et al. | β | 2012 | β |
| Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. | Ramsey LB et al. | β | 2012 | β |
| regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. | Teng M et al. | β | 2012 | β |
| Risk for myasthenia gravis maps to a (151) ProβAla change in TNIP1 and to human leukocyte antigen-B*08. | Gregersen PK et al. | β | 2012 | β |
| Rule-based induction method for haplotype comparison and identification of candidate disease loci. | Karinen S et al. | β | 2012 | β |
| Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations. | Kalfa N et al. | β | 2012 | β |
| SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data. | Fischer M et al. | β | 2012 | β |
| A guide to web tools to prioritize candidate genes. | Tranchevent LC et al. | β | 2011 | β |
| Allelic variants of complement genes associated with dense deposit disease. | Abrera-Abeleda MA et al. | β | 2011 | β |
| A new approach to assess and predict the functional roles of proteins across all known structures. | Julfayev ES et al. | β | 2011 | β |
| AnnotQTL: a new tool to gather functional and comparative information on a genomic region. | Lecerf F et al. | β | 2011 | β |
| A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus. | Huang L et al. | β | 2011 | β |
| BrainKnowledge: a human brain function mapping knowledge-base system. | Hsiao MY et al. | β | 2011 | β |
| Changes in predicted protein disorder tendency may contribute to disease risk. | Hu Y et al. | β | 2011 | β |
| Compensated pathogenic deviations. | BareΕ‘iΔ A et al. | β | 2011 | β |
| Databases and bioinformatics tools for the study of DNA repair. | Milanowska K et al. | β | 2011 | β |
| Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | Jordan DM et al. | β | 2011 | β |
| Evaluation of the disease liability of CFTR variants. | Sosnay PR et al. | β | 2011 | β |
| Evolutionary evidence of the effect of rare variants on disease etiology. | Gorlov IP et al. | β | 2011 | β |
| First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum. | Yu W et al. | β | 2011 | β |
| Functional studies of single-nucleotide polymorphic variants of human glutathione transferase T1-1 involving residues in the dimer interface. | Josephy PD et al. | β | 2011 | β |
| Genetic and epigenetic association studies suggest a role of microRNA biogenesis gene exportin-5 (XPO5) in breast tumorigenesis. | Leaderer D et al. | β | 2011 | β |
| Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. | Wat MJ et al. | β | 2011 | β |
| ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis. | Kaya N 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 and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. | Leonardi E et al. | β | 2011 | β |
| Improving the prediction of disease-related variants using protein three-dimensional structure. | Capriotti E et al. | β | 2011 | β |
| In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. | Zhang Z et al. | β | 2011 | β |
| Interpretation of genetic testing: variants of unknown significance. | Fogel BL | β | 2011 | β |
| Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. | Kuchtey J et al. | β | 2011 | β |
| Meet me halfway: when genomics meets structural bioinformatics. | Gong S et al. | β | 2011 | β |
| Molecular insight into human platelet antigens: structural and evolutionary conservation analyses offer new perspective to immunogenic disorders. | Landau M et al. | β | 2011 | β |
| Neighborhood properties are important determinants of temperature sensitive mutations. | Lockwood S 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 |
| Performance of mutation pathogenicity prediction methods on missense variants. | Thusberg J et al. | β | 2011 | β |
| PINTA: a web server for network-based gene prioritization from expression data. | Nitsch D et al. | β | 2011 | β |
| Predicting disease-associated substitution of a single amino acid by analyzing residue interactions. | Li Y et al. | β | 2011 | β |
| Predicting functionally important SNP classes based on negative selection. | Levenstien MA et al. | β | 2011 | β |
| Predicting the functional impact of protein mutations: application to cancer genomics. | Reva B et al. | β | 2011 | β |
| Prioritizing single-nucleotide variations that potentially regulate alternative splicing. | Teng M et al. | β | 2011 | β |
| Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. | Ducamp S et al. | β | 2011 | β |
| Smoking, the xenobiotic pathway, and clubfoot. | Sommer A et al. | β | 2011 | β |
| Statistical analysis of rare sequence variants: an overview of collapsing methods. | Dering C et al. | β | 2011 | β |
| Structural and functional impact of cancer-related missense somatic mutations. | Shi Z et al. | β | 2011 | β |
| Testing for an unusual distribution of rare variants. | Neale BM et al. | β | 2011 | β |
| Web tools for the prioritization of candidate disease genes. | Oti M et al. | β | 2011 | β |
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | Louie CM et al. | β | 2010 | β |
| A method and server for predicting damaging missense mutations. | Adzhubei IA et al. | β | 2010 | β |
| Analysis of mismatch repair gene mutations in Turkish HNPCC patients. | Tunca B 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 |
| Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. | Thyagarajan B et al. | β | 2010 | β |
| Bioinformatic tools for identifying disease gene and SNP candidates. | Mooney SD et al. | β | 2010 | β |
| Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets. | Isokpehi RD et al. | β | 2010 | β |
| Computational analysis of missense mutations causing Snyder-Robinson syndrome. | Zhang Z 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 |
| Disease risk of missense mutations using structural inference from predicted function. | Horst JA et al. | β | 2010 | β |
| Domain altering SNPs in the human proteome and their impact on signaling pathways. | Liu Y et al. | β | 2010 | β |
| Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains. | Kelly L et al. | β | 2010 | β |
| FunctSNP: an R package to link SNPs to functional knowledge and dbAutoMaker: a suite of Perl scripts to build SNP databases. | Goodswen SJ et al. | β | 2010 | β |
| Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. | Weiss KH et al. | β | 2010 | β |
| Genotator: a disease-agnostic tool for genetic annotation of disease. | Wall DP et al. | β | 2010 | β |
| Human allelic variation: perspective from protein function, structure, and evolution. | Jordan DM et al. | β | 2010 | β |
| Improved detection of rare genetic variants for diseases. | Zhang L et al. | β | 2010 | β |
| Inferring the functional effects of mutation through clusters of mutations in homologous proteins. | Yue P et al. | β | 2010 | β |
| In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. | Mort M et al. | β | 2010 | β |
| Integrative platform to translate gene sets to networks. | Laakso M et al. | β | 2010 | β |
| Knowledge-based computational mutagenesis for predicting the disease potential of human non-synonymous single nucleotide polymorphisms. | Masso M 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 |
| Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. | Hijikata A 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 base excision repair pathway and graft-versus-host disease. | Arora M 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 |
| Prioritizing genes associated with prostate cancer development. | Gorlov IP et al. | β | 2010 | β |
| Protein annotation in the era of personal genomics. | Blicher T et al. | β | 2010 | β |
| Protein secondary structure appears to be robust under in silico evolution while protein disorder appears not to be. | Schaefer C et al. | β | 2010 | β |
| SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. | Friedrich A et al. | β | 2010 | β |
| Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. | Dowdell KC 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 |
| Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information. | Zhang Y et al. | β | 2010 | β |
| The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohorts. | Inoue K et al. | β | 2010 | β |
| A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. | Lahiry P et al. | β | 2009 | β |
| Analytical methods for inferring functional effects of single base pair substitutions in human cancers. | Lee W et al. | β | 2009 | β |
| An integrative scoring system for ranking SNPs by their potential deleterious effects. | Lee PH et al. | β | 2009 | β |
| A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity. | Allali-Hassani A et al. | β | 2009 | β |
| BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. | Wu C et al. | β | 2009 | β |
| Connecting protein interaction data, mutations, and disease using bioinformatics. | Chen JY et al. | β | 2009 | β |
| Correlating protein function and stability through the analysis of single amino acid substitutions. | Bromberg Y et al. | β | 2009 | β |
| Criteria for the selection of single nucleotide polymorphisms in pathway pharmacogenetics: TNF inhibitors as a case study. | Kooloos WM et al. | β | 2009 | β |
| From cancer genomes to cancer models: bridging the gaps. | Baudot A et al. | β | 2009 | β |
| Genetic variations in PI3K-AKT-mTOR pathway and bladder cancer risk. | Chen M et al. | β | 2009 | β |
| Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. | Taylor JG et al. | β | 2009 | β |
| Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review. | Carr DF et al. | β | 2009 | β |
| Modeling effects of human single nucleotide polymorphisms on protein-protein interactions. | Teng S et al. | β | 2009 | β |
| Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations. | Rangel-Santos A et al. | β | 2009 | β |
| Next generation tools for the annotation of human SNPs. | Karchin R | β | 2009 | β |
| Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods. | Thusberg J et al. | β | 2009 | β |
| Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. | Kumar P et al. | β | 2009 | β |
| Prediction of deleterious non-synonymous single nucleotide polymorphisms of genes related to ethanol-induced toxicity. | Wang LL 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 |
| SNPLogic: an interactive single nucleotide polymorphism selection, annotation, and prioritization system. | Pico AR et al. | β | 2009 | β |
| SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. | Xi H et al. | β | 2009 | β |
| The SAAPdb web resource: a large-scale structural analysis of mutant proteins. | Hurst JM et al. | β | 2009 | β |
| Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia. | van Schijndel JE et al. | β | 2009 | β |
| Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations. | Reumers J et al. | β | 2009 | β |
| A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. | Gotthardt D et al. | β | 2008 | β |
| Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. | Merner ND et al. | β | 2008 | β |
| Cataloging coding sequence variations in human genome databases. | Won HH et al. | β | 2008 | β |
| coliSNP database server mapping nsSNPs on protein structures. | Kono H et al. | β | 2008 | β |
| Comprehensive in silico mutagenesis highlights functionally important residues in proteins. | Bromberg Y et al. | β | 2008 | β |
| Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. | Zhu Y et al. | β | 2008 | β |
| Distribution and effects of nonsense polymorphisms in human genes. | Yamaguchi-Kabata Y et al. | β | 2008 | β |
| Evaluation of resequencing on number of tag SNPs of 13 atherosclerosis-related genes in Thai population. | Tocharoentanaphol C et al. | β | 2008 | β |
| F-SNP: computationally predicted functional SNPs for disease association studies. | Lee PH et al. | β | 2008 | β |
| Gain and loss of phosphorylation sites in human cancer. | Radivojac P et al. | β | 2008 | β |
| Gender and effects of a common genetic variant in the NOS1 regulator NOS1AP on cardiac repolarization in 3761 individuals from two independent populations. | Tobin MD et al. | β | 2008 | β |
| Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases. | Yu W et al. | β | 2008 | β |
| Genetic variation in an individual human exome. | Ng PC et al. | β | 2008 | β |
| Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis. | Rodriguez-Lopez J et al. | β | 2008 | β |
| In silico analysis of missense substitutions using sequence-alignment based methods. | Tavtigian SV et al. | β | 2008 | β |
| Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma. | Gu F et al. | β | 2008 | β |
| Lipoprotein lipase: A bioinformatics criterion for assessment of mutations as a risk factor for cardiovascular disease. | Glisic S et al. | β | 2008 | β |
| Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis. | van Loo KM et al. | β | 2008 | β |
| Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. | Nan H et al. | β | 2008 | β |
| MutDB: update on development of tools for the biochemical analysis of genetic variation. | Singh A et al. | β | 2008 | β |
| Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. | McWilliams RR et al. | β | 2008 | β |
| Profiling of genetic variations in inflammation pathway genes in relation to bladder cancer predisposition. | Yang H et al. | β | 2008 | β |
| SNP@Promoter: a database of human SNPs (single nucleotide polymorphisms) within the putative promoter regions. | Kim BC et al. | β | 2008 | β |
| Accurate prediction of deleterious protein kinase polymorphisms. | Torkamani A et al. | β | 2007 | β |
| Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. | CastellvΓ-Bel S et al. | β | 2007 | β |
| A survey of genomic properties for the detection of regulatory polymorphisms. | Montgomery SB et al. | β | 2007 | β |
| Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays. | Laakso M et al. | β | 2007 | β |
| PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease. | Jegga AG et al. | β | 2007 | β |
| Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations. | Jiang R et al. | β | 2007 | β |
| The structural basis of hyper IgM deficiency - CD40L mutations. | Thusberg J et al. | β | 2007 | β |
| Establishment of a pipeline to analyse non-synonymous SNPs in Bos taurus. | Lee MA et al. | β | 2006 | β |
| SNP@Domain: a web resource of single nucleotide polymorphisms (SNPs) within protein domain structures and sequences. | Han A et al. | β | 2006 | β |