| scholarly article | Q13442814 |
| P50 | author | Michael Krawczak | Q60985300 |
| Matthew Mort | Q110142175 | ||
| David N. Cooper | Q30503192 | ||
| P2093 | author name string | Amke Caliebe | |
| Carolin Knecht | |||
| Olaf Junge | |||
| P2860 | cites work | Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy. | Q50855218 |
| MutationTaster2: mutation prediction for the deep-sequencing age. | Q52877992 | ||
| Performance of mutation pathogenicity prediction methods on missense variants | Q58532128 | ||
| Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications | Q59204186 | ||
| Predicting deleterious amino acid substitutions | Q22065761 | ||
| A global reference for human genetic variation | Q25909434 | ||
| Disease gene identification strategies for exome sequencing | Q26866283 | ||
| A method and server for predicting damaging missense mutations | Q27860835 | ||
| Predicting the effects of amino acid substitutions on protein function | Q28250660 | ||
| ClinVar: public archive of interpretations of clinically relevant variants | Q28603051 | ||
| Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases | Q28708958 | ||
| Using bioinformatics to predict the functional impact of SNVs | Q28744088 | ||
| Comparison of the predicted and observed secondary structure of T4 phage lysozyme | Q29398301 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Amino acid difference formula to help explain protein evolution | Q29614440 | ||
| Assessing the accuracy of prediction algorithms for classification: an overview | Q29615358 | ||
| A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
| pROC: an open-source package for R and S+ to analyze and compare ROC curves | Q30050695 | ||
| Detection of nonneutral substitution rates on mammalian phylogenies | Q30080028 | ||
| Automated inference of molecular mechanisms of disease from amino acid substitutions. | Q30380440 | ||
| Deleterious SNP prediction: be mindful of your training data! | Q31094006 | ||
| On a Statistical Generalization of Metric Spaces | Q33747328 | ||
| The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine | Q34374148 | ||
| Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. | Q34768428 | ||
| Functional annotations improve the predictive score of human disease-related mutations in proteins | Q34985914 | ||
| 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 | ||
| dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs | Q36576476 | ||
| Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox | Q37645064 | ||
| Molecular genetic epidemiology of human diseases: from patterns to predictions | Q38163379 | ||
| PON-P: integrated predictor for pathogenicity of missense variants | Q39364474 | ||
| The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity | Q39951063 | ||
| dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions | Q42059080 | ||
| 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 | ||
| P275 | copyright license | Creative Commons Attribution-NonCommercial 4.0 International | Q34179348 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 3 | |
| P304 | page(s) | e13 | |
| P577 | publication date | 2017-02-01 | |
| P1433 | published in | Nucleic Acids Research | Q135122 |
| P1476 | title | IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants | |
| P478 | volume | 45 |
| Q58106112 | CADD: predicting the deleteriousness of variants throughout the human genome |
| Q57170230 | Computational resources associating diseases with genotypes, phenotypes and exposures |
| Q41472888 | Genetic Code Optimization for Cotranslational Protein Folding: Codon Directional Asymmetry Correlates with Antiparallel Betasheets, tRNA Synthetase Classes |
| Q49489514 | IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome |
| Q55644927 | Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes. |
| Q36324942 | The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies |
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