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Title
Blind prediction of deleterious amino acid variations with SNPs&GO
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 38, Issue 9, Pages 1064-1071
Publisher
Wiley
Online
2017-01-20
DOI
10.1002/humu.23179
References
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Related references
Note: Only part of the references are listed.- VarI-SIG 2015: methods for personalized medicine – the role of variant interpretation in research and diagnostics
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- 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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- WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation
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- The Cancer Genome Atlas Pan-Cancer analysis project
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- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
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- A new disease-specific machine learning approach for the prediction of cancer-causing missense variants
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- Exploring the functional consequences of genomic variation: The 2010 Human Genome Variation Society Scientific Meeting
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- Performance of mutation pathogenicity prediction methods on missense variants
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- Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
- (2010) Anaïs Mottaz et al. BIOINFORMATICS
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- International network of cancer genome projects
- (2010) Thomas J. Hudson (Chairperson) et al. NATURE
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