VariBench: A Benchmark Database for Variations

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

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

A comprehensive protein-centric ID mapping service for molecular data integration

(2011) H. Huang et al.   BIOINFORMATICS

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

(2011) Stephanie Hicks et al.   HUMAN MUTATION

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

(2011) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

UniProt Knowledgebase: a hub of integrated protein data

(2011) M. Magrane et al.   Database-The Journal of Biological Databases and Curation

Ensembl BioMarts: a hub for data retrieval across taxonomic space

(2011) R. J. Kinsella et al.   Database-The Journal of Biological Databases and Curation

CD-HIT Suite: a web server for clustering and comparing biological sequences

(2010) Ying Huang et al.   BIOINFORMATICS

Preferred analysis methods for Affymetrix GeneChips. II. An expanded, balanced, wholly-defined spike-in dataset

(2010) Qianqian Zhu et al.   BMC BIOINFORMATICS

Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea

(2010) Christina Mitropoulou et al.   HUMAN MUTATION

Performance of protein stability predictors

(2010) Sofia Khan et al.   HUMAN MUTATION

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

(2010) Matthew Mort et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Issues in bioinformatics benchmarking: the case study of multiple sequence alignment

(2010) M. R. Aniba et al.   NUCLEIC ACIDS RESEARCH

Protein-protein docking benchmark version 4.0

(2010) Howook Hwang et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

Next generation tools for the annotation of human SNPs

(2009) Rachel Karchin   BRIEFINGS IN BIOINFORMATICS

ClassifyingMLH1andMSH2variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

(2009) Sven Arnold 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

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 Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

HGVbaseG2P: a central genetic association database

(2008) G. A. Thorisson et al.   NUCLEIC ACIDS RESEARCH

GENETICS: The Human Variome Project

(2008) R. G. H. Cotton et al.   SCIENCE