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Benjamin J. Livesey et al.
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C. Cubuk et al.
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John Jumper et al.
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Pfam: The protein families database in 2021
Jaina Mistry et al.
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Davide Chicco et al.
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Systematic misclassification of missense variants in BRCA1 and BRCA2 coldspots
Jennifer N. Dines et al.
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Variant effect predictions capture some aspects of deep mutational scanning experiments
Jonas Reeb et al.
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The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
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dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Xiaoming Liu et al.
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Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia
Maris Alver et al.
GENETICS IN MEDICINE (2019)
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Oscar Marin et al.
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Frank J. Poelwijk et al.
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The EVcouplings Python framework for coevolutionary sequence analysis
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Eran Kotler et al.
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Multiplex assessment of protein variant abundance by massively parallel sequencing
Kenneth A. Matreyek et al.
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Laksshman Sundaram et al.
NATURE GENETICS (2018)
IUPred2A: context-dependent prediction of protein disorder as a function of redox state and protein binding
Balint Meszaros et al.
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ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
Najmeh Alirezaie et al.
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The properties of Msh2-Msh6 ATP binding mutants suggest a signal amplification mechanism in DNA mismatch repair
William J. Graham et al.
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Accurate classification of BRCA1 variants with saturation genome editing
Gregory M. Findlay et al.
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Deep generative models of genetic variation capture the effects of mutations
Adam J. Riesselman et al.
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S. Kalia et al.
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Mutation effects predicted from sequence co-variation
Thomas A. Hopf et al.
NATURE BIOTECHNOLOGY (2017)
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins
Daniele Raimondi et al.
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SIFT missense predictions for genomes
Robert Vaser et al.
NATURE PROTOCOLS (2016)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M. Amendola et al.
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Structured States of Disordered Proteins from Genomic Sequences
Agnes Toth-Petroczy et al.
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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A. Jagadeesh et al.
NATURE GENETICS (2016)
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
Sue Richards et al.
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Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Laura M. Amendola et al.
GENOME RESEARCH (2015)
National Expenditure For False-Positive Mammograms And Breast Cancer Overdiagnoses Estimated At $4 Billion A Year
Mei-Sing Ong et al.
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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
Dominik G. Grimm et al.
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ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Identifying Mendelian disease genes with the Variant Effect Scoring Tool
Hannah Carter et al.
BMC GENOMICS (2013)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al.
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Epistasis as the primary factor in molecular evolution
Michael S. Breen et al.
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Protein structure prediction from sequence variation
Debora S. Marks et al.
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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy
Daniel M. Jordan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions
Mitzi L. Murray et al.
GENETICS IN MEDICINE (2011)
Protein 3D Structure Computed from Evolutionary Sequence Variation
Debora S. Marks et al.
PLOS ONE (2011)
Slow protein evolutionary rates are dictated by surface-core association
Agnes Toth-Petroczy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Compensated Pathogenic Deviations: Analysis of Structural Effects
Anja Baresic et al.
JOURNAL OF MOLECULAR BIOLOGY (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
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Second-site suppression of regulatory phosphorylation in Escherichia coli isocitrate dehydrogenase
Ridong Chen et al.
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PALB2 is an integral component of the BRCA complex required for homologous recombination repair
Shirley M. H. Sy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Human gene mutation database (HGMD®):: 2003 update
PD Stenson et al.
HUMAN MUTATION (2003)
Dobzhansky-Muller incompatibilities in protein evolution
AS Kondrashov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Model-based clustering, discriminant analysis, and density estimation
C Fraley et al.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION (2002)
Greedy function approximation: A gradient boosting machine
JH Friedman
ANNALS OF STATISTICS (2001)
Additive logistic regression: A statistical view of boosting
J Friedman et al.
ANNALS OF STATISTICS (2000)
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