A method and server for predicting damaging missense mutations.

Cited by (1,113)

Items 101–200 of 1,113

1. Somatic ERCC2 Mutations Correlate with Cisplatin Sensitivity in Muscle-Invasive Urothelial Carcinoma
   Eliezer M. Van Allen, Kent William Mouw, Philip Kim, Gopa Iyer, Nikhil Wagle, Hikmat A Al‐Ahmadie, Cong Zhu, Irina Ostrovnaya, Gregory V. Kryukov, Kevin W. O’Connor et al. · 2014 · Cancer Discovery
2. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
   Day, Felix, Karaderi, Tugce, Jones, Michelle R., Meun, Cindy, He, Chunyan, Drong, Alex, Kraft, Peter, Lin, Nan, Huang, Hongyan, Broer, Linda et al. · 2018 · PLOS Genetics
3. Better prediction of functional effects for sequence variants
   Maximilian Hecht, Yana Bromberg, Burkhard Rost · 2015 · BMC Genomics
4. A spectral approach integrating functional genomic annotations for coding and noncoding variants
   Iuliana Ionita‐Laza, Kenneth McCallum, Bin Xu, Joseph D. Buxbaum · 2016 · Nature Genetics
5. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation
   Giulia Fabbri, Silvia Rasi, Davide Rossi, Vladimir A. Trifonov, Hossein Khiabanian, Jing Ma, Adina Grunn, Marco Fangazio, Daniela Capello, Sara M. Monti et al. · 2011 · The Journal of Experimental Medicine
6. Modeling aspects of the language of life through transfer-learning protein sequences
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7. Modeling the language of life – Deep Learning Protein Sequences
   Heinzinger, Michael, Elnaggar, Ahmed, Wang, Yu, Dallago, Christian, Nechaev, Dmitrii, Matthes, Florian, Rost, Burkhard · 2019
8. Deep generative models of genetic variation capture the effects of mutations
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9. A survey of tools for variant analysis of next-generation genome sequencing data
   Stephan Pabinger, Andreas Dander, M. Fischer, René Snajder, Michael Sperk, Mirjana Efremova, Birgit Krabichler, Michael R. Speicher, Johannes Zschocke, Zlatko Trajanoski · 2013 · Briefings in Bioinformatics
10. The genetic landscape of mutations in Burkitt lymphoma
    Cassandra Love, Zhen Sun, Dereje D. Jima, Guojie Li, Jenny Zhang, Rodney R. Miles, Kristy L. Richards, Cherie H. Dunphy, William W.L. Choi, Gopesh Srivastava et al. · 2012 · Nature Genetics
11. Widespread macromolecular interaction perturbations in human genetic disorders
    Sahni, Nidhi, Yi, Song, Taipale, Mikko, Fuxman Bass, Juan I., Coulombe-Huntington, Jasmin, Yang, Fan, Peng, Jian, Weile, Jochen, Karras, Georgios I., Wang, Yang et al. · 2015 · Cell
12. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
    Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S. et al. · 2022 · The American Journal of Human Genetics
13. dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
    Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle · 2013 · Human Mutation
14. IntOGen-mutations identifies cancer drivers across tumor types
    Abel González-Pérez, Christian Perez-Llamas, Jordi Deu-Pons, David Tamborero, Michael P. Schroeder, Alba Jené-Sanz, Alberto Santos, Núria López-Bigas · 2013 · Nature Methods
15. The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers
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16. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
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17. An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
    Mountjoy, Edward, Schmidt, Ellen M., Carmona, Miguel, Schwartzentruber, Jeremy, Peat, Gareth, Miranda, Alfredo, Fumis, Luca, Hayhurst, James, Buniello, Annalisa, Karim, Mohd Anisul et al. · 2021 · Nature Genetics
18. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
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19. Identifying Mendelian disease genes with the Variant Effect Scoring Tool
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20. Statistical power and significance testing in large-scale genetic studies
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21. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
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22. Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease
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23. Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
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24. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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25. Performance of mutation pathogenicity prediction methods on missense variants
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26. Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
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27. Abundant Pleiotropy in Human Complex Diseases and Traits
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28. Pan-cancer landscape of homologous recombination deficiency.
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29. Functional annotation of noncoding sequence variants
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30. Whole-genome sequencing of quartet families with autism spectrum disorder
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31. Oncotator: Cancer Variant Annotation Tool
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32. Genome-wide associations for birth weight and correlations with adult disease
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33. The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer’s disease
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34. Predicting the clinical impact of human mutation with deep neural networks
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35. The GeneCards Suite
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36. Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?
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37. Emerging patterns of somatic mutations in cancer
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38. Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
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39. Comprehensive identification of mutational cancer driver genes across 12 tumor types
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40. Targeted Next-Generation Sequencing Panel (ThyroSeq) for Detection of Mutations in Thyroid Cancer
    Marina N. Nikiforova, Abigail I. Wald, Somak Roy, Mary Beth Durso, Yuri E. Nikiforov · 2013 · The Journal of Clinical Endocrinology & Metabolism
41. Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma
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42. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
    Michael J. Ciancanelli, Sarah X.L. Huang, Priya Luthra, Hannah Garner, Yuval Itan, Stefano Volpi, Fabien G. Lafaille, Céline Trouillet, Mirco Schmolke, Randy A. Albrecht et al. · 2015 · Science
43. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
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44. Impact of regulatory variation from RNA to protein
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45. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
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46. Role of non-coding sequence variants in cancer
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47. Disease gene identification strategies for exome sequencing
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48. The 1000 Genomes Project: Data Management and Community Access
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49. Inherited and de novo genetic risk for autism impacts shared networks
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50. Ensembl variation resources
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51. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
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52. Lanosterol reverses protein aggregation in cataracts
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53. Next-generation diagnostics and disease-gene discovery with the Exomiser
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54. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
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55. wANNOVAR: annotating genetic variants for personal genomes via the web
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56. Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway
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57. What we still don't know about invasion genetics
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58. De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
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59. Using high-resolution variant frequencies to empower clinical genome interpretation
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60. Increased exonic de novo mutation rate in individuals with schizophrenia
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61. De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
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62. Clinical application of exome sequencing in undiagnosed genetic conditions
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63. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
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64. RETRACTED ARTICLE: Artificial intelligence and machine learning in precision and genomic medicine
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65. Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
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66. Molecular genetic testing and the future of clinical genomics
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67. Clinicopathological and molecular characterisation of ‘multiple‐classifier’ endometrial carcinomas
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68. PSORS2 Is Due to Mutations in CARD14
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69. Interpretation of somatic POLE mutations in endometrial carcinoma
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70. A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology
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71. Personalized genomic analyses for cancer mutation discovery and interpretation
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72. Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma
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73. Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears
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74. Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance
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75. Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication
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76. Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides
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77. Multiple sclerosis genetics
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78. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia
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79. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
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80. Unravelling the complexity of metastasis — molecular understanding and targeted therapies
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81. Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
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82. Perspectives for Genomic Selection Applications and Research in Plants
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83. Somatic mutations in cerebral cortical malformations
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84. Deep Dermatophytosis and Inherited CARD9 Deficiency
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85. POT1 loss-of-function variants predispose to familial melanoma
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86. Genomics advances the study of inbreeding depression in the wild
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87. ALK Mutations Confer Differential Oncogenic Activation and Sensitivity to ALK Inhibition Therapy in Neuroblastoma
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88. College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
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89. Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants
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90. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
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91. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes
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92. Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms
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93. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
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94. Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors
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95. Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins
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96. Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
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97. Multi-cancer analysis of clonality and the timing of systemic spread in paired primary tumors and metastases
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98. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
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99. Improved exome prioritization of disease genes through cross-species phenotype comparison
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100. A panoply of errors: polymerase proofreading domain mutations in cancer
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