Research graph
References from WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease. Local targets link to admitted publications; unresolved targets remain external evidence.
Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series
10.1097/md.0000000000025463 · 2021 · External reference
Wilson’s disease: A review of what we have learned
10.4254/wjh.v7.i29.2859 · 2015 · External reference
The global prevalence of Wilson disease from next-generation sequencing data
10.1038/s41436-018-0309-9 · 2019 · External reference
Estimation of Wilson’s disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system
10.1089/gte.2008.0016 · 2008 · External reference
Update on the Diagnosis and Management of Wilson Disease
10.1007/s11894-018-0660-7 · 2018 · External reference
Estimate of the frequency of Wilson’s disease in the US Caucasian population: a mutation analysis approach
10.1046/j.1469-1809.2001.6550459.x · 2001 · External reference
Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach
10.1038/jhg.2017.49 · 2017 · External reference
High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
10.1186/s12881-018-0660-3 · 2018 · External reference
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
10.1038/gim.2015.30 · 2015 · External reference
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease
2020 · External reference
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
10.1093/nar/gkq603 · 2010 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · 2020 · External reference
A global reference for human genetic variation
10.1038/nature15393 · 2015 · External reference
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
10.1038/ng.3592 · 2016 · External reference
Unresolved reference
2011 · External reference
Tabular data: Deep learning is not all you need
10.1016/j.inffus.2021.11.011 · 2022 · External reference
Unresolved reference
External reference
10.1145/2939672.2939785
10.1145/2939672.2939785 · External reference
10.1007/978-1-4842-5364-9_4
10.1007/978-1-4842-5364-9_4 · External reference
Unresolved reference
External reference
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm
10.1016/j.ajhg.2021.03.010 · 2021 · External reference
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
10.1038/s41598-022-06547-3 · 2022 · External reference
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 · External reference
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
10.1016/j.ajhg.2016.08.016 · 2016 · External reference
SIFT: predicting amino acid changes that affect protein function
10.1093/nar/gkg509 · 2003 · External reference
Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2
2013 · External reference
A SPECTRAL APPROACH INTEGRATING FUNCTIONAL GENOMIC ANNOTATIONS FOR CODING AND NONCODING VARIANTS
10.1038/ng.3477 · 2016 · External reference
Identification of deleterious mutations within three human genomes
10.1101/gr.092619.109 · 2009 · External reference
MutationTaster evaluates disease-causing potential of sequence alterations
10.1038/nmeth0810-575 · 2010 · External reference
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
10.1002/humu.22225 · 2013 · External reference
Predicting the functional effect of amino acid substitutions and indels
10.1371/journal.pone.0046688 · 2012 · External reference
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
10.1093/hmg/ddu733 · 2014 · External reference
Determinants of protein function revealed by combinatorial entropy optimization
10.1186/gb-2007-8-11-r232 · 2007 · External reference
ClinVar: public archive of relationships among sequence variation and human phenotype
10.1093/nar/gkt1113 · 2014 · External reference
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
10.1016/j.jhepr.2020.100114 · 2020 · External reference
