- Home
- Publications
- Publication Search
- Publication Details
Title
Representativeness of variation benchmark datasets
Authors
Keywords
Representativeness, Benchmark datasets, Variation, Variation interpretation, Mutation
Journal
BMC BIOINFORMATICS
Volume 19, Issue 1, Pages -
Publisher
Springer Nature
Online
2018-11-29
DOI
10.1186/s12859-018-2478-6
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- PON-tstab: Protein Variant Stability Predictor. Importance of Training Data Quality
- (2018) Yang Yang et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Protein moonlighting: what is it, and why is it important?
- (2017) Constance J. Jeffery PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- How to Define Pathogenicity, Health, and Disease?
- (2016) Mauno Vihinen HUMAN MUTATION
- The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions
- (2016) Casandra Riera et al. HUMAN MUTATION
- Variation Interpretation Predictors: Principles, Types, Performance, and Choice
- (2016) Abhishek Niroula et al. HUMAN MUTATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Ensembl 2017
- (2016) Bronwen L. Aken et al. NUCLEIC ACIDS RESEARCH
- UniProt: the universal protein knowledgebase
- (2016) NUCLEIC ACIDS RESEARCH
- COSMIC: somatic cancer genetics at high-resolution
- (2016) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Correct machine learning on protein sequences: a peer-reviewing perspective
- (2015) Ian Walsh et al. BRIEFINGS IN BIOINFORMATICS
- Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2
- (2015) Abhishek Niroula et al. HUMAN MUTATION
- VariSNP, A Benchmark Database for Variations From dbSNP
- (2015) Gerard C.P. Schaafsma et al. HUMAN MUTATION
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
- (2015) Dominik G. Grimm et al. HUMAN MUTATION
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- The Pfam protein families database: towards a more sustainable future
- (2015) Robert D. Finn et al. NUCLEIC ACIDS RESEARCH
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants
- (2015) Abhishek Niroula et al. PLoS One
- Majority Vote and Other Problems when using Computational Tools
- (2014) Mauno Vihinen HUMAN MUTATION
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- CATH: comprehensive structural and functional annotations for genome sequences
- (2014) Ian Sillitoe et al. NUCLEIC ACIDS RESEARCH
- PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations
- (2014) Jaroslav Bendl et al. PLoS Computational Biology
- Identifying Mendelian disease genes with the Variant Effect Scoring Tool
- (2013) Hannah Carter et al. BMC GENOMICS
- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
- (2012) Mauno Vihinen BMC GENOMICS
- PON-P: Integrated predictor for pathogenicity of missense variants
- (2012) Ayodeji Olatubosun et al. HUMAN MUTATION
- Classification of mismatch repair gene missense variants with PON-MMR
- (2012) Heidi Ali et al. HUMAN MUTATION
- VariBench: A Benchmark Database for Variations
- (2012) Preethy Sasidharan Nair et al. HUMAN MUTATION
- Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis
- (2012) Mauno Vihinen HUMAN MUTATION
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Performance of mutation pathogenicity prediction methods on missense variants
- (2011) Janita Thusberg et al. HUMAN MUTATION
- A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
- (2011) Noralane M. Lindor et al. HUMAN MUTATION
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
- (2010) Anaïs Mottaz et al. BIOINFORMATICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Functional annotations improve the predictive score of human disease-related mutations in proteins
- (2009) Remo Calabrese et al. HUMAN MUTATION
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started