| scholarly article | Q13442814 |
| review article | Q7318358 |
| P356 | DOI | 10.1534/GENETICS.116.190033 |
| P8608 | Fatcat ID | release_5ewstpfu3beqnl5lcn6hyheoki |
| P932 | PMC publication ID | 4896183 |
| P698 | PubMed publication ID | 27270698 |
| P50 | author | Paul D Thomas | Q61770112 |
| Haiming Tang | Q96097673 | ||
| P2093 | author name string | Haiming Tang | |
| P2860 | cites work | Predicting deleterious amino acid substitutions | Q22065761 |
| An integrated encyclopedia of DNA elements in the human genome | Q22122150 | ||
| An integrated map of genetic variation from 1,092 human genomes | Q22122153 | ||
| Gene ontology: tool for the unification of biology | Q23781406 | ||
| Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes | Q24534193 | ||
| Gapped BLAST and PSI-BLAST: a new generation of protein database search programs | Q24545170 | ||
| Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders | Q24558589 | ||
| Amino acid substitution matrices from protein blocks | Q24563220 | ||
| dbSNP: the NCBI database of genetic variation | Q24608672 | ||
| Ongoing and future developments at the Universal Protein Resource | Q24616298 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Improved tools for biological sequence comparison | Q24652199 | ||
| Comprehensive genomic characterization defines human glioblastoma genes and core pathways | Q24656128 | ||
| A haplotype map of the human genome | Q24679827 | ||
| I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure | Q24812223 | ||
| Somatic mosaicism: implications for disease and transmission genetics | Q27016060 | ||
| An epistatic ratchet constrains the direction of glucocorticoid receptor evolution | Q27657553 | ||
| The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003 | Q27860747 | ||
| A method and server for predicting damaging missense mutations | Q27860835 | ||
| The rapid generation of mutation data matrices from protein sequences | Q27860880 | ||
| The consensus coding sequences of human breast and colorectal cancers | Q27861035 | ||
| PAML: a program package for phylogenetic analysis by maximum likelihood | Q27861096 | ||
| Characterization of single-nucleotide polymorphisms in coding regions of human genes | Q28138557 | ||
| Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis | Q28138570 | ||
| Predicting the effects of amino acid substitutions on protein function | Q28250660 | ||
| A DNA polymorphism discovery resource for research on human genetic variation | Q28292727 | ||
| PON-P2: prediction method for fast and reliable identification of harmful variants | Q28543185 | ||
| Prioritizing causal disease genes using unbiased genomic features | Q28652887 | ||
| Bioinformatics for personal genome interpretation | Q28728835 | ||
| Using bioinformatics to predict the functional impact of SNVs | Q28744088 | ||
| Next generation tools for the annotation of human SNPs | Q28755491 | ||
| Critical assessment of methods of protein structure prediction (CASP)--round x | Q29048203 | ||
| PANTHER: a library of protein families and subfamilies indexed by function | Q29547480 | ||
| Human non-synonymous SNPs: server and survey | Q29547603 | ||
| Hierarchical Bayes prioritization of marker associations from a genome-wide association scan for further investigation | Q43452320 | ||
| Understanding human disease mutations through the use of interspecific genetic variation | Q43572665 | ||
| The IARC TP53 database: new online mutation analysis and recommendations to users | Q43714274 | ||
| Compensated deleterious mutations in insect genomes | Q44162643 | ||
| Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details. | Q45393724 | ||
| AUTO-MUTE: web-based tools for predicting stability changes in proteins due to single amino acid replacements. | Q45962868 | ||
| Genetic studies of the lac repressor. XIV. Analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as "spacers" which do not require a specific sequence. | Q46020329 | ||
| PMUT: a web-based tool for the annotation of pathological mutations on proteins. | Q46477731 | ||
| Scoring hidden Markov models. | Q46841011 | ||
| Bayesian approach to discovering pathogenic SNPs in conserved protein domains | Q47228584 | ||
| Human Gene Mutation Database (HGMD): 2003 update | Q47903166 | ||
| Use of receiver operating characteristic (ROC) analysis to evaluate sequence matching | Q47914143 | ||
| Profile analysis | Q48086526 | ||
| Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy. | Q50855218 | ||
| PSIC: profile extraction from sequence alignments with position-specific counts of independent observations. | Q51646465 | ||
| Calculation of conformational ensembles from potentials of mean force. An approach to the knowledge-based prediction of local structures in globular proteins. | Q52451138 | ||
| Performance of mutation pathogenicity prediction methods on missense variants | Q58532128 | ||
| Complete mutagenesis of the HIV-1 protease | Q59066144 | ||
| Position-based sequence weights | Q72819629 | ||
| One-stop shop for disease genes | Q74202139 | ||
| Predicting free energy changes using structural ensembles | Q83130634 | ||
| Patterns of somatic mutation in human cancer genomes | Q29547841 | ||
| Amino acid difference formula to help explain protein evolution | Q29614440 | ||
| Distribution and intensity of constraint in mammalian genomic sequence | Q29614574 | ||
| Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations | Q29615143 | ||
| A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
| MutationTaster evaluates disease-causing potential of sequence alterations | Q29615749 | ||
| Protein structure prediction using Rosetta | Q29616386 | ||
| Distinguishing Homologous from Analogous Proteins | Q29617777 | ||
| Detection of nonneutral substitution rates on mammalian phylogenies | Q30080028 | ||
| SNPs, protein structure, and disease. | Q30328103 | ||
| Energy functions for protein design: adjustment with protein-protein complex affinities, models for the unfolded state, and negative design of solubility and specificity. | Q30350272 | ||
| SNPs3D: candidate gene and SNP selection for association studies. | Q30353456 | ||
| Automated inference of molecular mechanisms of disease from amino acid substitutions. | Q30380440 | ||
| Role of conformational sampling in computing mutation-induced changes in protein structure and stability | Q30399243 | ||
| Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed | Q30401706 | ||
| MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets | Q30429953 | ||
| Reliable identification of large numbers of candidate SNPs from public EST data | Q30559720 | ||
| PhenCode: connecting ENCODE data with mutations and phenotype | Q31103056 | ||
| The use of orthologous sequences to predict the impact of amino acid substitutions on protein function | Q33594401 | ||
| GENETICS. The Human Variome Project | Q33608598 | ||
| Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar | Q33706430 | ||
| Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2 | Q33910123 | ||
| SNPdbe: constructing an nsSNP functional impacts database | Q34243865 | ||
| Collective judgment predicts disease-associated single nucleotide variants | Q34354991 | ||
| Dobzhansky-Muller incompatibilities in protein evolution | Q34380180 | ||
| Computational and theoretical methods for protein folding | Q34382310 | ||
| VariBench: a benchmark database for variations | Q34383949 | ||
| Dirichlet mixtures: a method for improved detection of weak but significant protein sequence homology | Q34405966 | ||
| Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information | Q34555349 | ||
| Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase | Q34579607 | ||
| SNAP: predict effect of non-synonymous polymorphisms on function | Q34631704 | ||
| Mouse duplicate genes are as essential as singletons | Q34636141 | ||
| The Protein Mutant Database | Q34691892 | ||
| Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. | Q34768428 | ||
| WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation | Q34789974 | ||
| Functional annotations improve the predictive score of human disease-related mutations in proteins | Q34985914 | ||
| VarRanker: rapid prioritization of sequence variations associated with human disease | Q35051590 | ||
| Bioinformatics challenges for personalized medicine | Q35051893 | ||
| Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies | Q35221430 | ||
| Predicting the functional impact of protein mutations: application to cancer genomics | Q35224321 | ||
| A probabilistic model to predict clinical phenotypic traits from genome sequencing | Q35238316 | ||
| Better prediction of functional effects for sequence variants | Q35673957 | ||
| Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes | Q36247119 | ||
| Src homology 2 protein tyrosine phosphatase (SHPTP2)/Src homology 2 phosphatase 2 (SHP2) tyrosine phosphatase is a positive regulator of the interleukin 5 receptor signal transduction pathways leading to the prolongation of eosinophil survival | Q36380535 | ||
| Immunodeficiency mutation databases (IDbases). | Q36605099 | ||
| Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants | Q36913464 | ||
| ChroMoS: an integrated web tool for SNP classification, prioritization and functional interpretation | Q37088113 | ||
| Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro | Q37213363 | ||
| PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations | Q37487954 | ||
| Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. | Q37585393 | ||
| Prediction of functional regulatory SNPs in monogenic and complex disease | Q37643059 | ||
| The origins, determinants, and consequences of human mutations | Q38592660 | ||
| PON-P: integrated predictor for pathogenicity of missense variants | Q39364474 | ||
| PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation | Q39755491 | ||
| The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity | Q39951063 | ||
| Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation | Q40718968 | ||
| dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions | Q42059080 | ||
| BeAtMuSiC: Prediction of changes in protein-protein binding affinity on mutations. | Q42134723 | ||
| A combined functional annotation score for non-synonymous variants | Q42227205 | ||
| Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models | Q42288039 | ||
| is-rSNP: a novel technique for in silico regulatory SNP detection | Q42429933 | ||
| Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity | Q42698843 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | genetic variation | Q349856 |
| P1104 | number of pages | 13 | |
| P304 | page(s) | 635-647 | |
| P577 | publication date | 2016-06-01 | |
| P1433 | published in | Genetics | Q3100575 |
| P1476 | title | Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation | |
| P478 | volume | 203 |
| Q91845107 | Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants |
| Q92163347 | Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016 |
| Q91631549 | Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders |
| Q101356242 | Comprehensive in silico mutational-sensitivity analysis of PTEN establishes signature regions implicated in pathogenesis of Autism Spectrum Disorders |
| Q60046981 | Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data |
| Q57657552 | Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach |
| Q48247773 | Computational prediction of the phenotypic effects of genetic variants: basic concepts and some application examples in Drosophila nervous system genes. |
| Q36317783 | Data resources for the identification and interpretation of actionable mutations by clinicians. |
| Q90905845 | Discovery of new susceptibility genes: proceed cautiously |
| Q98665271 | Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale |
| Q88876762 | Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity |
| Q64039293 | GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data |
| Q58702723 | Genome Wide Identification of Mutational Hotspots in the Apicomplexan Parasite Neospora caninum and the Implications for Virulence |
| Q39141707 | High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine. |
| Q64272238 | How good are pathogenicity predictors in detecting benign variants? |
| Q64055201 | Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes |
| Q93112463 | Integrated transcriptomic-genomic tool Texomer profiles cancer tissues |
| Q41702733 | Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype |
| Q55186226 | Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics. |
| Q91845900 | Pred-MutHTP: Prediction of disease-causing and neutral mutations in human transmembrane proteins |
| Q64987652 | Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. |
| Q36245217 | Predicting Severity of Disease-Causing Variants |
| Q45943092 | Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data. |
| Q42270133 | Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria |
| Q62491494 | Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives |
Search more.