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An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships

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Assessing performance of pathogenicity predictors using clinically relevant variant datasets

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Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

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How good are pathogenicity predictors in detecting benign variants?

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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

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Accurate classification of BRCA1 variants with saturation genome editing

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Mutational processes shape the landscape of TP53 mutations in human cancer

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UniProt: a worldwide hub of protein knowledge

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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

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ClinVar: improving access to variant interpretations and supporting evidence

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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

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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

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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

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Identifying Mendelian disease genes with the Variant Effect Scoring Tool

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Overfitting in prediction models – Is it a problem only in high dimensions?

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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

Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

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ClinVar: public archive of relationships among sequence variation and human phenotype

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

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MutationTaster evaluates disease-causing potential of sequence alterations

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In silico analysis of missense substitutions using sequence-alignment based methods

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