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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

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Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

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Understanding human disease mutations through the use of interspecific genetic variation

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

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The amino-acid mutational spectrum of human genetic disease

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

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Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

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Sequence‐based prediction of pathological mutations

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Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

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Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

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Interpreting missense variants: comparing computational methods in human disease genesCDKN2A,MLH1,MSH2,MECP2, and tyrosinase (TYR)

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Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian GenomesPreprint

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Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

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Structure-Based Assessment of Missense Mutations in Human BRCA1

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A nucleotide substitution model with nearest-neighbour interactions

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Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

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Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

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Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

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Characterization of Common BRCA1 and BRCA2 Variants

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Deleterious SNP prediction: be mindful of your training data!

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Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning

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Application of Embryonic Lethal or Other Obvious Phenotypes to Characterize the Clinical Significance of Genetic Variants Found in Trans with Known Deleterious Mutations

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Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

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Deleterious Mutations and Neutral Substitutions

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Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

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Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms

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Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans

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A reality check for alignments and trees

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

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Functional annotations improve the predictive score of human disease-related mutations in proteins

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

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Bioinformatics challenges for personalized medicine

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PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update

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Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

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

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Rare variants in the ATMgene and risk of breast cancer

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

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Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

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Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

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Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

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Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

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An informatics approach to analyzing the incidentalome

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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

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A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

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

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

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Assessment of functional effects of unclassified genetic variants

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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

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BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management

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A new disease-specific machine learning approach for the prediction of cancer-causing missense variants

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A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

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Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome

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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

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VaRank: a simple and powerful tool for ranking genetic variants

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Response to DNA damage of CHEK2 missense mutations in familial breast cancer

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Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

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Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

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Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

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Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer

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

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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

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Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

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