标题
Variation Interpretation Predictors: Principles, Types, Performance, and Choice
作者
关键词
-
出版物
HUMAN MUTATION
Volume 37, Issue 6, Pages 579-597
出版商
Wiley
发表日期
2016-03-18
DOI
10.1002/humu.22987
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- PON-Sol: prediction of effects of amino acid substitutions on protein solubility
- (2016) Yang Yang et al. BIOINFORMATICS
- Human Variome Project Quality Assessment Criteria for Variation Databases
- (2016) Mauno Vihinen et al. HUMAN MUTATION
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations
- (2016) Abhishek Niroula et al. NUCLEIC ACIDS RESEARCH
- Investigating the linkage between disease-causing amino acid variants and their effect on protein stability and binding
- (2016) Yunhui Peng et al. PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
- AVIA v2.0: annotation, visualization and impact analysis of genomic variants and genes: Fig. 1.
- (2015) Hue Vuong et al. BIOINFORMATICS
- MEMCover: integrated analysis of mutual exclusivity and functional network reveals dysregulated pathways across multiple cancer types
- (2015) Yoo-Ah Kim et al. BIOINFORMATICS
- MADGiC: a model-based approach for identifying driver genes in cancer
- (2015) Keegan D. Korthauer et al. BIOINFORMATICS
- INPS: predicting the impact of non-synonymous variations on protein stability from sequence
- (2015) Piero Fariselli et al. BIOINFORMATICS
- Identifying overlapping mutated driver pathways by constructing gene networks in cancer
- (2015) Hao Wu et al. BMC BIOINFORMATICS
- SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering
- (2015) Jimmy Van den Eynden et al. BMC BIOINFORMATICS
- MAESTRO - multi agent stability prediction upon point mutations
- (2015) Josef Laimer et al. BMC BIOINFORMATICS
- Computational methods and resources for the interpretation of genomic variants in cancer
- (2015) Rui Tian et al. BMC GENOMICS
- Harmful somatic amino acid substitutions affect key pathways in cancers
- (2015) Abhishek Niroula et al. BMC Medical Genomics
- Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
- (2015) Nidhi Sahni et al. CELL
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Types and effects of protein variations
- (2015) Mauno Vihinen HUMAN GENETICS
- Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2
- (2015) Abhishek Niroula et al. HUMAN MUTATION
- Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts
- (2015) Owen Lancaster et al. HUMAN MUTATION
- wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases
- (2015) Miguel Vazquez et al. HUMAN MUTATION
- Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
- (2015) Jouni Väliaho 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
- Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)
- (2015) Christopher Douville et al. HUMAN MUTATION
- The CamSol Method of Rational Design of Protein Mutants with Enhanced Solubility
- (2015) Pietro Sormanni et al. JOURNAL OF MOLECULAR BIOLOGY
- No more hidden solutions in bioinformatics
- (2015) Mauno Vihinen NATURE
- A method to predict the impact of regulatory variants from DNA sequence
- (2015) Dongwon Lee et al. NATURE GENETICS
- MIMP: predicting the impact of mutations on kinase-substrate phosphorylation
- (2015) Omar Wagih et al. NATURE METHODS
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
- (2015) Hui Yang et al. Nature Protocols
- Human genotype–phenotype databases: aims, challenges and opportunities
- (2015) Anthony J. Brookes et al. NATURE REVIEWS GENETICS
- Patient-specific driver gene prediction and risk assessment through integrated network analysis of cancer omics profiles
- (2015) Denis Bertrand et al. NUCLEIC ACIDS RESEARCH
- AGGRESCAN3D (A3D): server for prediction of aggregation properties of protein structures
- (2015) Rafael Zambrano et al. NUCLEIC ACIDS RESEARCH
- ENCODE data at the ENCODE portal
- (2015) Cricket A. Sloan et al. NUCLEIC ACIDS RESEARCH
- Comparison of predicted and actual consequences of missense mutations
- (2015) Lisa A. Miosge et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Muddled genetic terms miss and mess the message
- (2015) Mauno Vihinen TRENDS IN GENETICS
- Identifying Driver Genomic Alterations in Cancers by Searching Minimum-Weight, Mutually Exclusive Sets
- (2015) Songjian Lu et al. PLoS Computational Biology
- PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants
- (2015) Abhishek Niroula et al. PLoS One
- Pathway Relevance Ranking for Tumor Samples through Network-Based Data Integration
- (2015) Lieven P. C. Verbeke et al. PLoS One
- ContrastRank: a new method for ranking putative cancer driver genes and classification of tumor samples
- (2014) Rui Tian et al. BIOINFORMATICS
- Quantitative prediction of the effect of genetic variation using hidden Markov models
- (2014) Mingming Liu et al. BMC BIOINFORMATICS
- A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i)
- (2014) Carlos Bermejo-Das-Neves et al. BMC BIOINFORMATICS
- Discovery of co-occurring driver pathways in cancer
- (2014) Junhua Zhang et al. BMC BIOINFORMATICS
- Feature-based multiple models improve classification of mutation-induced stability changes
- (2014) Lukas Folkman et al. BMC GENOMICS
- NeEMO: a method using residue interaction networks to improve prediction of protein stability upon mutation
- (2014) Manuel Giollo et al. BMC GENOMICS
- MutaCYP: Classification of missense mutations in human cytochromes P450
- (2014) Kenneth Fechter et al. BMC Medical Genomics
- Deciphering oncogenic drivers: from single genes to integrated pathways
- (2014) J. Chen et al. BRIEFINGS IN BIOINFORMATICS
- Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions
- (2014) Heidi Ali et al. HUMAN MUTATION
- Majority Vote and Other Problems when using Computational Tools
- (2014) Mauno Vihinen HUMAN MUTATION
- Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics
- (2014) Tugba Kucukkal et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Functional annotation of noncoding sequence variants
- (2014) Graham R S Ritchie et al. NATURE METHODS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Expanding the computational toolbox for mining cancer genomes
- (2014) Li Ding et al. NATURE REVIEWS GENETICS
- Genenames.org: the HGNC resources in 2015
- (2014) Kristian A. Gray et al. NUCLEIC ACIDS RESEARCH
- PASTA 2.0: an improved server for protein aggregation prediction
- (2014) Ian Walsh et al. NUCLEIC ACIDS RESEARCH
- In silico prediction of splice-altering single nucleotide variants in the human genome
- (2014) Xueqiu Jian et al. NUCLEIC ACIDS RESEARCH
- DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach
- (2014) D. E. V. Pires et al. NUCLEIC ACIDS RESEARCH
- UniProt: a hub for protein information
- (2014) NUCLEIC ACIDS RESEARCH
- Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools
- (2014) Lucie Grodecká et al. PLoS One
- Exposing synonymous mutations
- (2014) Ryan C. Hunt et al. TRENDS IN GENETICS
- Kin-Driver: a database of driver mutations in protein kinases
- (2014) F. L. Simonetti et al. Database-The Journal of Biological Databases and Curation
- DawnRank: discovering personalized driver genes in cancer
- (2014) Jack P Hou et al. Genome Medicine
- DOTS-Finder: a comprehensive tool for assessing driver genes in cancer genomes
- (2014) Giorgio EM Melloni et al. Genome Medicine
- Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine
- (2014) Benjamin J Raphael et al. Genome Medicine
- VarWalker: Personalized Mutation Network Analysis of Putative Cancer Genes from Next-Generation Sequencing Data
- (2014) Peilin Jia et al. PLoS Computational Biology
- PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations
- (2014) Jaroslav Bendl et al. PLoS Computational Biology
- MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
- (2014) Matthew Mort et al. GENOME BIOLOGY
- DrGaP: A Powerful Tool for Identifying Driver Genes and Pathways in Cancer Sequencing Studies
- (2013) Xing Hua et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein
- (2013) Roberto Perniola et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Predicting the functional consequences of cancer-associated amino acid substitutions
- (2013) Hashem A. Shihab et al. BIOINFORMATICS
- OncodriveCLUST: exploiting the positional clustering of somatic mutations to identify cancer genes
- (2013) David Tamborero et al. BIOINFORMATICS
- Identification of deleterious synonymous variants in human genomes
- (2013) Orion J. Buske et al. BIOINFORMATICS
- Bioinformatics analysis of the epitope regions for norovirus capsid protein
- (2013) Liping Chen et al. BMC BIOINFORMATICS
- Collective judgment predicts disease-associated single nucleotide variants
- (2013) Emidio Capriotti et al. BMC GENOMICS
- Identifying Mendelian disease genes with the Variant Effect Scoring Tool
- (2013) Hannah Carter et al. BMC GENOMICS
- Variation Ontology for annotation of variation effects and mechanisms
- (2013) M. Vihinen GENOME RESEARCH
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- Best Practices for Evaluating Mutation Prediction Methods
- (2013) Peter K. Rogan et al. HUMAN MUTATION
- Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants
- (2013) Thomas A. Peterson et al. JOURNAL OF MOLECULAR BIOLOGY
- Molecular Mechanisms of Disease-Causing Missense Mutations
- (2013) Shannon Stefl et al. JOURNAL OF MOLECULAR BIOLOGY
- The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein–Protein Interactions
- (2013) Christopher M. Yates et al. JOURNAL OF MOLECULAR BIOLOGY
- Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers
- (2013) J. Reimand et al. Molecular Systems Biology
- Mutational heterogeneity in cancer and the search for new cancer-associated genes
- (2013) Michael S. Lawrence et al. NATURE
- Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- (2013) Bryony A Thompson et al. NATURE GENETICS
- Computational approaches to identify functional genetic variants in cancer genomes
- (2013) NATURE METHODS
- InvFEST, a database integrating information of polymorphic inversions in the human genome
- (2013) Alexander Martínez-Fundichely et al. NUCLEIC ACIDS RESEARCH
- Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
- (2013) Petros Papadopoulos et al. NUCLEIC ACIDS RESEARCH
- The Taverna workflow suite: designing and executing workflows of Web Services on the desktop, web or in the cloud
- (2013) Katherine Wolstencroft et al. NUCLEIC ACIDS RESEARCH
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP
- (2013) Morten Bo Johansen et al. PLoS One
- The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics
- (2013) Qiong Wei et al. PLoS One
- SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins
- (2013) Jing Hu et al. PLoS One
- MetAmyl: A METa-Predictor for AMYLoid Proteins
- (2013) Mathieu Emily et al. PLoS One
- CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features
- (2013) Yong Mao et al. PLoS One
- Cancer Genome Landscapes
- (2013) B. Vogelstein et al. SCIENCE
- Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
- (2013) Jason O'Rawe et al. Genome Medicine
- Amino Acid Changes in Disease-Associated Variants Differ Radically from Variants Observed in the 1000 Genomes Project Dataset
- (2013) Tjaart A. P. de Beer et al. PLoS Computational Biology
- Simultaneous Identification of Multiple Driver Pathways in Cancer
- (2013) Mark D. M. Leiserson et al. PLoS Computational Biology
- DriverNet: uncovering the impact of somatic driver mutations on transcriptional networks in cancer
- (2013) Ali Bashashati et al. GENOME BIOLOGY
- DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels
- (2013) Huiying Zhao et al. GENOME BIOLOGY
- Structure-based prediction of the effects of a missense variant on protein stability
- (2012) Yang Yang et al. AMINO ACIDS
- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
- (2012) Mauno Vihinen BMC GENOMICS
- Bioinformatics for personal genome interpretation
- (2012) E. Capriotti et al. BRIEFINGS IN BIOINFORMATICS
- A Landscape of Driver Mutations in Melanoma
- (2012) Eran Hodis et al. CELL
- Analyzing Effects of Naturally Occurring Missense Mutations
- (2012) Zhe Zhang et al. Computational and Mathematical Methods in Medicine
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- MuSiC: Identifying mutational significance in cancer genomes
- (2012) N. D. Dees et al. GENOME RESEARCH
- 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
- Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions
- (2012) Bryony A. Thompson et al. HUMAN MUTATION
- Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis
- (2012) David L. Masica et al. HUMAN MUTATION
- VariBench: A Benchmark Database for Variations
- (2012) Preethy Sasidharan Nair et al. HUMAN MUTATION
- A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry
- (2012) Bryony A. Thompson et al. HUMAN MUTATION
- Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
- (2012) Claude Houdayer et al. HUMAN MUTATION
- Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis
- (2012) Mauno Vihinen HUMAN MUTATION
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- dbVar and DGVa: public archives for genomic structural variation
- (2012) Ilkka Lappalainen et al. NUCLEIC ACIDS RESEARCH
- Functional impact bias reveals cancer drivers
- (2012) Abel Gonzalez-Perez et al. NUCLEIC ACIDS RESEARCH
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors
- (2012) K. Edlund et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation
- (2012) Abel Gonzalez-Perez et al. Genome Medicine
- Predicting the effects of frameshifting indels
- (2012) Jing Hu et al. GENOME BIOLOGY
- Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy
- (2011) Daniel M. Jordan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer
- (2011) Wing Chung Wong et al. BIOINFORMATICS
- Improving the prediction of disease-related variants using protein three-dimensional structure
- (2011) Emidio Capriotti et al. BMC BIOINFORMATICS
- Ranking insertion, deletion and nonsense mutations based on their effect on genetic information
- (2011) Amin Zia et al. BMC BIOINFORMATICS
- Discovering functional modules by identifying recurrent and mutually exclusive mutational patterns in tumors
- (2011) Christopher A Miller et al. BMC Medical Genomics
- Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
- (2011) Jean Christophe Théry et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- De novo discovery of mutated driver pathways in cancer
- (2011) F. Vandin et al. GENOME RESEARCH
- Mutual exclusivity analysis identifies oncogenic network modules
- (2011) G. Ciriello et al. GENOME RESEARCH
- A new disease-specific machine learning approach for the prediction of cancer-causing missense variants
- (2011) Emidio Capriotti et al. GENOMICS
- Guidelines for establishing locus specific databases
- (2011) Mauno Vihinen et al. HUMAN MUTATION
- Curating gene variant databases (LSDBs): Toward a universal standard
- (2011) Jacopo Celli et al. HUMAN MUTATION
- WAVe: web analysis of the variome
- (2011) Pedro Lopes et al. HUMAN MUTATION
- Describing structural changes by extending HGVS sequence variation nomenclature
- (2011) Peter E.M. Taschner et al. HUMAN MUTATION
- 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
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Disease mutations in disordered regions—exception to the rule?
- (2011) Vladimir Vacic et al. Molecular BioSystems
- Understanding the contribution of synonymous mutations to human disease
- (2011) Zuben E. Sauna et al. NATURE REVIEWS GENETICS
- Variation in the mutation rate across mammalian genomes
- (2011) Alan Hodgkinson et al. NATURE REVIEWS GENETICS
- PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and mouse
- (2011) P. V. Hornbeck et al. NUCLEIC ACIDS RESEARCH
- Prediction of 492 human protein kinase substrate specificities
- (2011) Javad Safaei et al. Proteome Science
- Scoring function to predict solubility mutagenesis
- (2010) Ye Tian et al. Algorithms for Molecular Biology
- PROlocalizer: integrated web service for protein subcellular localization prediction
- (2010) Kirsti Laurila et al. AMINO ACIDS
- Using bioinformatics to predict the functional impact of SNVs
- (2010) M. S. Cline et al. BIOINFORMATICS
- is-rSNP: a novel technique for in silico regulatory SNP detection
- (2010) Geoff Macintyre et al. BIOINFORMATICS
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- Sequence feature-based prediction of protein stability changes upon amino acid substitutions
- (2010) Shaolei Teng et al. BMC GENOMICS
- Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea
- (2010) Christina Mitropoulou et al. HUMAN MUTATION
- Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)
- (2010) Sue Povey et al. HUMAN MUTATION
- How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
- (2010) Maija R.J. Kohonen-Corish et al. HUMAN MUTATION
- Quantifying the effect of sequence variation on regulatory interactions
- (2010) Thomas Manke et al. HUMAN MUTATION
- Performance of protein stability predictors
- (2010) Sofia Khan et al. HUMAN MUTATION
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Exploring the sequence determinants of amyloid structure using position-specific scoring matrices
- (2010) Sebastian Maurer-Stroh et al. NATURE METHODS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
- (2010) S. A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Automated Network Analysis Identifies Core Pathways in Glioblastoma
- (2010) Ethan Cerami et al. PLoS One
- AUTO-MUTE: web-based tools for predicting stability changes in proteins due to single amino acid replacements
- (2010) M. Masso et al. PROTEIN ENGINEERING DESIGN & SELECTION
- Locus Reference Genomic sequences: an improved basis for describing human DNA variants
- (2010) Raymond Dalgleish et al. Genome Medicine
- Large-scale data integration framework provides a comprehensive view on glioblastoma multiforme
- (2010) Kristian Ovaska et al. Genome Medicine
- Genomic features defining exonic variants that modulate splicing
- (2010) Adam Woolfe et al. GENOME BIOLOGY
- Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences
- (2010) Jeremy Goecks et al. GENOME BIOLOGY
- Reliable prediction of protein thermostability change upon double mutation from amino acid sequence
- (2009) Liang-Tsung Huang et al. BIOINFORMATICS
- Automated inference of molecular mechanisms of disease from amino acid substitutions
- (2009) B. Li et al. BIOINFORMATICS
- Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0
- (2009) Yves Dehouck et al. BIOINFORMATICS
- FoldAmyloid: a method of prediction of amyloidogenic regions from protein sequence
- (2009) S. O. Garbuzynskiy et al. BIOINFORMATICS
- Prediction of disease-related mutations affecting protein localization
- (2009) Kirsti Laurila et al. BMC GENOMICS
- Immunome Knowledge Base (IKB): An integrated service for immunome research
- (2009) Csaba Ortutay et al. BMC IMMUNOLOGY
- Next generation tools for the annotation of human SNPs
- (2009) Rachel Karchin BRIEFINGS IN BIOINFORMATICS
- Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project
- (2009) Richard G H Cotton et al. GENETICS IN MEDICINE
- Sharing data between LSDBs and central repositories
- (2009) Johan T. den Dunnen et al. HUMAN MUTATION
- Functional annotations improve the predictive score of human disease-related mutations in proteins
- (2009) Remo Calabrese et al. HUMAN MUTATION
- Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods
- (2009) Janita Thusberg et al. HUMAN MUTATION
- Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
- (2009) Øystein L. Holla et al. MOLECULAR GENETICS AND METABOLISM
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details
- (2009) V. Potapov et al. PROTEIN ENGINEERING DESIGN & SELECTION
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
- (2008) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A three-state prediction of single point mutations on protein stability changes
- (2008) Emidio Capriotti et al. BMC BIOINFORMATICS
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
- Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase
- (2008) Yum L. Yip et al. HUMAN MUTATION
- Accurate classification ofMLH1/MSH2missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)
- (2008) Elizabeth C. Chao et al. HUMAN MUTATION
- Evaluation of in silico splice tools for decision-making in molecular diagnosis
- (2008) Claude Houdayer et al. HUMAN MUTATION
- Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration
- (2008) M. Olivier et al. HUMAN MUTATION
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
- Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach
- (2008) Lawrence S. Hon et al. HUMAN MUTATION
- Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
- (2008) Maaike P.G. Vreeswijk et al. HUMAN MUTATION
- Prediction of Aggregation-Prone Regions in Structured Proteins
- (2008) Gian Gaetano Tartaglia et al. JOURNAL OF MOLECULAR BIOLOGY
- Comprehensive genomic characterization defines human glioblastoma genes and core pathways
- (2008) Roger McLendon et al. NATURE
- Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
- (2008) Qun Pan et al. NATURE GENETICS
- Genotype–phenotype databases: challenges and solutions for the post-genomic era
- (2008) Gudmundur A. Thorisson et al. NATURE REVIEWS GENETICS
- Distance-scaled, finite ideal-gas reference state improves structure-derived potentials of mean force for structure selection and stability prediction
- (2002) Hongyi Zhou et al. PROTEIN SCIENCE
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