On the public citation graph
Identification of pathogenic variant enriched regions across genes and gene families
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/humu.10212openalex-snapshot
Human Gene Mutation Database (HGMD®): 2003 update
inferredcites →https://doi.org/10.1002/humu.22114openalex-snapshot
Paralogous annotation of disease-causing variants in long QT syndrome genes
inferredcites →https://doi.org/10.1002/humu.22225openalex-snapshot
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
inferredcites →https://doi.org/10.1002/humu.22932openalex-snapshot
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
inferredcites →https://doi.org/10.1002/humu.22981openalex-snapshot
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
inferredcites →https://doi.org/10.1002/humu.23313openalex-snapshot
Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics
inferredcites →https://doi.org/10.1007/978-0-387-98141-3openalex-snapshot
ggplot2: Elegant Graphics for Data Analysis
inferredcites →https://doi.org/10.1016/j.ajhg.2016.08.016openalex-snapshot
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
inferredcites →https://doi.org/10.1038/ejhg.2011.258openalex-snapshot
Disease gene identification strategies for exome sequencing
inferredcites →https://doi.org/10.1038/gim.2014.122openalex-snapshot
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
inferredcites →https://doi.org/10.1038/gim.2015.30openalex-snapshot
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
inferredcites →https://doi.org/10.1038/gim.2017.210openalex-snapshot
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
inferredcites →https://doi.org/10.1038/nature15393openalex-snapshot
A global reference for human genetic variation
inferredcites →https://doi.org/10.1038/nature19057openalex-snapshot
Analysis of protein-coding genetic variation in 60,706 humans
inferredcites →https://doi.org/10.1038/ng.2892openalex-snapshot
A general framework for estimating the relative pathogenicity of human genetic variants
inferredcites →https://doi.org/10.1038/ng.f.136openalex-snapshot
Common and rare variants in multifactorial susceptibility to common diseases
inferredcites →https://doi.org/10.1038/nmeth0410-248openalex-snapshot
A method and server for predicting damaging missense mutations
inferredcites →https://doi.org/10.1038/nprot.2009.86openalex-snapshot
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
inferredcites →https://doi.org/10.1038/nrg3031openalex-snapshot
Exome sequencing as a tool for Mendelian disease gene discovery
inferredcites →https://doi.org/10.1038/nrg3521openalex-snapshot
New genes as drivers of phenotypic evolution
inferredcites →https://doi.org/10.1038/nrg977openalex-snapshot
The evolution of signalling pathways in animal development
inferredcites →https://doi.org/10.1038/s41588-018-0143-7openalex-snapshot
De novo variants in neurodevelopmental disorders with epilepsy
inferredcites →https://doi.org/10.1073/pnas.0910672106openalex-snapshot
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
inferredcites →https://doi.org/10.1073/pnas.1511585112openalex-snapshot
Comparison of predicted and actual consequences of missense mutations
inferredcites →https://doi.org/10.1073/pnas.1515057112openalex-snapshot
Can the impact of human genetic variations be predicted?
inferredcites →https://doi.org/10.1093/bioinformatics/bti325openalex-snapshot
Tree pattern matching in phylogenetic trees: automatic search for orthologs or paralogs in homologous gene sequence databases
inferredcites →https://doi.org/10.1093/bioinformatics/btr330openalex-snapshot
The variant call format and VCFtools
inferredcites →https://doi.org/10.1093/database/bar030openalex-snapshot
Ensembl BioMarts: a hub for data retrieval across taxonomic space
inferredcites →https://doi.org/10.1093/gbe/evw194openalex-snapshot
Paralog-Specific Patterns of Structural Disorder and Phosphorylation in the Vertebrate SH3–SH2–Tyrosine Kinase Protein Family
inferredcites →https://doi.org/10.1093/nar/gkh103openalex-snapshot
The UCSC Table Browser data retrieval tool
inferredcites →https://doi.org/10.1093/nar/gkh340openalex-snapshot
MUSCLE: multiple sequence alignment with high accuracy and high throughput
inferredcites →https://doi.org/10.1093/nar/gkv1222openalex-snapshot
ClinVar: public archive of interpretations of clinically relevant variants
inferredcites →https://doi.org/10.1093/nar/gkv1344openalex-snapshot
The Pfam protein families database: towards a more sustainable future
inferredcites →https://doi.org/10.1093/nar/gkw1033openalex-snapshot
Genenames.org: the HGNC and VGNC resources in 2017
inferredcites →https://doi.org/10.1093/nar/gkw1121openalex-snapshot
COSMIC: somatic cancer genetics at high-resolution
inferredcites →https://doi.org/10.1101/148353openalex-snapshot
Regional missense constraint improves variant deleteriousness prediction
inferredcites →https://doi.org/10.1101/159780openalex-snapshot
Gene family information facilitates variant interpretation and identification of disease-associated genes
inferredcites →https://doi.org/10.1101/gr.226589.117openalex-snapshot
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
inferredcites →https://doi.org/10.1101/gr.3577405openalex-snapshot
Distribution and intensity of constraint in mammalian genomic sequence
inferredcites →https://doi.org/10.1126/science.185.4154.862openalex-snapshot
Amino Acid Difference Formula to Help Explain Protein Evolution
inferredcites →https://doi.org/10.1136/jmedgenet-2013-101917openalex-snapshot
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia
inferredcites →https://doi.org/10.1186/1471-2164-14-3openalex-snapshot
Genome-wide expression profiling of maize in response to individual and combined water and nitrogen stresses
inferredcites →https://doi.org/10.1186/1471-2164-14-s3-s3openalex-snapshot
Identifying Mendelian disease genes with the Variant Effect Scoring Tool
inferredcites →https://doi.org/10.1186/s12859-016-0935-7openalex-snapshot
LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer
inferredcites →https://doi.org/10.1186/s13059-016-0869-4openalex-snapshot
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes
inferredcites →https://doi.org/10.1371/journal.pcbi.1003073openalex-snapshot
Human Monogenic Disease Genes Have Frequently Functionally Redundant Paralogs
inferredcites →https://doi.org/10.1371/journal.pgen.1003709openalex-snapshot
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
inferredcites →https://doi.org/10.1371/journal.pgen.1007327openalex-snapshot
Role of duplicate genes in determining the tissue-selectivity of hereditary diseases
inferredcites →https://doi.org/10.32614/cran.package.googlecomputeengineropenalex-snapshot
googleComputeEngineR: R Interface with Google Compute Engine
inferredcites →https://doi.org/10.32614/r.manualsopenalex-snapshot
R: A Language and Environment for Statistical Computing
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1038/s10038-020-0772-4openalex-snapshot
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan
inferred← citeshttps://doi.org/10.1101/693937openalex-snapshot
Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
inferred← citeshttps://doi.org/10.1186/s13073-021-00870-6openalex-snapshot
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1371/journal.pgen.1008922openalex-snapshot
Unified inference of missense variant effects and gene constraints in the human genome
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