DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels

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

Towards sequence-based prediction of mutation-induced stability changes in unseen non-homologous proteins

(2014) Lukas Folkman et al.   BMC GENOMICS

Feature-based multiple models improve classification of mutation-induced stability changes

(2014) Lukas Folkman et al.   BMC GENOMICS

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

(2014) X. Zhang et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

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

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins

(2013) Jing Hu et al.   PLoS One

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

(2013) Huiying Zhao et al.   GENOME BIOLOGY

SPINE-D: Accurate Prediction of Short and Long Disordered Regions by a Single Neural-Network Based Method

(2012) Tuo Zhang et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Ranking insertion, deletion and nonsense mutations based on their effect on genetic information

(2011) Amin Zia et al.   BMC BIOINFORMATICS

Natural genetic variation caused by small insertions and deletions in the human genome

(2011) R. E. Mills et al.   GENOME RESEARCH

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

SPINE X: Improving protein secondary structure prediction by multistep learning coupled with prediction of solvent accessible surface area and backbone torsion angles

(2011) Eshel Faraggi et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY

HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

(2011) Michael Remmert et al.   NATURE METHODS

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting Continuous Local Structure and the Effect of Its Substitution for Secondary Structure in Fragment-Free Protein Structure Prediction

(2009) Eshel Faraggi et al.   STRUCTURE

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION