Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

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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

BRCA1andBRCA2genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

(2015) D. M. Eccles et al.   ANNALS OF ONCOLOGY

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

(2015) Ivone US Leong et al.   BMC Medical Genetics

Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy

(2015) Sabine C. Mueller et al.   BRIEFINGS IN BIOINFORMATICS

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

Performance of In Silico Tools for the Evaluation ofUGT1A1Missense Variants

(2015) Carina Rodrigues 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

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

Prediction of the pathogenicity of antithrombin sequence variations by in silico methods

(2015) Beate Luxembourg et al.   THROMBOSIS RESEARCH

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients

(2015) Rosa Santacroce et al.   THROMBOSIS RESEARCH

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

(2014) Phillip J. Whiley et al.   PLoS One

A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

(2012) L. Guidugli et al.   CANCER RESEARCH

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2012) Noralane M. Lindor et al.   HUMAN MUTATION

Variants of Uncertain Significance inBRCA1andBRCA2assessment of in silico analysis and a proposal for communication in genetic counselling

(2012) Setareh Moghadasi et al.   JOURNAL OF MEDICAL GENETICS

The changes that count

(2012) Monya Baker   NATURE

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

(2011) Mads Thomassen et al.   BREAST CANCER RESEARCH AND TREATMENT

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

(2011) Stephanie Hicks et al.   HUMAN MUTATION

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

(2010) Amanda B Spurdle   CURRENT OPINION IN GENETICS & DEVELOPMENT

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

(2010) Andrew Tutt et al.   LANCET

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Haplotype of the C61G BRCA1 Mutation in Polish and Jewish Individuals

(2009) Bella Kaufman et al.   Genetic Testing and Molecular Biomarkers

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian 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