Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests

Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling

(2017) Jonathan Gallion et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

INPS: predicting the impact of non-synonymous variations on protein stability from sequence

(2015) Piero Fariselli et al.   BIOINFORMATICS

Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients

(2015) A. A. Osman et al.   CANCER RESEARCH

Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer

(2015) D. M. Neskey et al.   CANCER 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

Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival

(2015) Lisa K. Mullany et al.   NEOPLASIA

PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants

(2015) Abhishek Niroula et al.   PLoS One

A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness

(2014) Panagiotis Katsonis et al.   GENOME RESEARCH

CDKN2AUnclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

(2014) Maria Chiara Scaini et al.   HUMAN MUTATION

Wee-1 Kinase Inhibition Overcomes Cisplatin Resistance Associated with High-Risk TP53 Mutations in Head and Neck Cancer through Mitotic Arrest Followed by Senescence

(2014) A. A. Osman et al.   MOLECULAR CANCER THERAPEUTICS

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

Single nucleotide variations: Biological impact and theoretical interpretation

(2014) Panagiotis Katsonis et al.   PROTEIN SCIENCE

Variability in pathogenicity prediction programs: impact on clinical diagnostics

(2014) Lauren C. Walters-Sen et al.   Molecular Genetics & Genomic Medicine

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation

(2013) Emidio Capriotti et al.   BMC GENOMICS

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools

(2013) S. Castellana et al.   BRIEFINGS IN BIOINFORMATICS

Protein Kinase A and Phosphodiesterase-4D3 Binding to Coding Polymorphisms of Cardiac Muscle Anchoring Protein (mAKAP)

(2013) Abeer Rababa'h et al.   JOURNAL OF MOLECULAR BIOLOGY

Prediction and experimental validation of enzyme substrate specificity in protein structures

(2013) S. R. Amin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prediction of phenotypes of missense mutations in human proteins from biological assemblies

(2013) Qiong Wei et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Epistasis as the primary factor in molecular evolution

(2012) Michael S. Breen et al.   NATURE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

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

(2011) Stephanie Hicks et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Protein 3D Structure Computed from Evolutionary Sequence Variation

(2011) Debora S. Marks et al.   PLoS One

Evolution: a guide to perturb protein function and networks

(2010) Olivier Lichtarge et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Human allelic variation: perspective from protein function, structure, and evolution

(2010) Daniel M Jordan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

(2010) Sarah E. Flanagan et al.   Genetic Testing and Molecular Biomarkers

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Evolution-guided discovery and recoding of allosteric pathway specificity determinants in psychoactive bioamine receptors

(2010) Gustavo J. Rodriguez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Environment-specific amino acid substitution tables: Tertiary templates and prediction of protein folds

(2010) John Overington et al.   PROTEIN SCIENCE

The Use of Orthologous Sequences to Predict the Impact of Amino Acid Substitutions on Protein Function

(2010) Nicholas J. Marini et al.   PLoS Genetics

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates

(2009) R. Matthew Ward et al.   BIOINFORMATICS

Evolutionary Trace Annotation of Protein Function in the Structural Proteome

(2009) Serkan Erdin et al.   JOURNAL OF MOLECULAR BIOLOGY

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA