Predicting Severity of Disease-Causing Variants

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

(2016) Haiming Tang et al.   GENETICS

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

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

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

(2016) Monkol Lek et al.   NATURE

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

(2016) Haiming Tang et al.   GENETICS

Computational assessment of feature combinations for pathogenic variant prediction

(2016) Eva König et al.   Molecular Genetics & Genomic Medicine

Correct machine learning on protein sequences: a peer-reviewing perspective

(2015) Ian Walsh et al.   BRIEFINGS IN BIOINFORMATICS

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

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

In silicoanalyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A

(2015) M. Sengupta et al.   HAEMOPHILIA

Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

(2015) Ljubica Caldovic et al.   Journal of Genetics and Genomics

Computational study of missense mutations in phenylalanine hydroxylase

(2015) Kamila Réblová et al.   JOURNAL OF MOLECULAR MODELING

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

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

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity

(2014) David L. Masica et al.   HUMAN MOLECULAR GENETICS

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

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

Assessing genotype–phenotype correlation in Costello syndrome using a severity score

(2013) Elizabeth M. McCormick et al.   GENETICS IN MEDICINE

Mutations and Polymorphisms in the HumanArgininosuccinate Lyase(ASL) Gene

(2013) Cécile Balmer et al.   HUMAN MUTATION

Sweat chloride as a biomarker of CFTR activity: Proof of concept and ivacaftor clinical trial data

(2013) Frank J. Accurso et al.   Journal of Cystic Fibrosis

Japanese severity score for acute pancreatitis well predicts in-hospital mortality: a nationwide survey of 17,901 cases

(2013) Tsuyoshi Hamada et al.   JOURNAL OF GASTROENTEROLOGY

The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics

(2013) Qiong Wei et al.   PLoS One

How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis

(2012) Mauno Vihinen   BMC GENOMICS

The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: A New Online Resource

(2012) Amanda B. Payne 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

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

A validated disease severity scoring system for adults with type 1 Gaucher disease

(2010) Neal J Weinreb et al.   GENETICS IN MEDICINE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

(2009) Lisbeth Birk Møller et al.   BIOCHIMIE

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS