Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
about
A ribosomal misincorporation of Lys for Arg in human triosephosphate isomerase expressed in Escherichia coli gives rise to two protein populationsBioinformatics for personal genome interpretationPICMI: mapping point mutations on genomesAn association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretationSDS, a structural disruption score for assessment of missense variant deleteriousness.SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein StructuresProSAT+: visualizing sequence annotations on 3D structure.Meet me halfway: when genomics meets structural bioinformatics.MSV3d: database of human MisSense Variants mapped to 3D protein structure.Estimating the rate of irreversibility in protein evolution.The role of balanced training and testing data sets for binary classifiers in bioinformatics.ELM 2016--data update and new functionality of the eukaryotic linear motif resource.PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements.A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).IthaGenes: an interactive database for haemoglobin variations and epidemiologyHuman germline and pan-cancer variomes and their distinct functional profilesDisease-related mutations predicted to impact protein function.Collective judgment predicts disease-associated single nucleotide variantsWS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation.NECTAR: a database of codon-centric missense variant annotations.Identification of cis-suppression of human disease mutations by comparative genomics.Bioinformatics and variability in drug response: a protein structural perspective.KD4v: Comprehensible Knowledge Discovery System for Missense Variant.Prevalent Accumulation of Non-Optimal Codons through Somatic Mutations in Human Cancers.Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with DiseasesREVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.Whole-genome sequencing in personalized therapeutics.Deciphering oncogenic drivers: from single genes to integrated pathways.Blind prediction of deleterious amino acid variations with SNPs&GO.Computational assessment of feature combinations for pathogenic variant prediction.Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols.Impact of Nonsynonymous Single-Nucleotide Variations on Post-Translational Modification Sites in Human Proteins.HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.Asparagine Synthetase deficiency-report of a novel mutation and review of literature.Prediction of phenotypes of missense mutations in human proteins from biological assemblies.Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
P2860
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P2860
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Easy retrieval of single amino ...... ype information using SwissVar
@ast
Easy retrieval of single amino ...... ype information using SwissVar
@en
type
label
Easy retrieval of single amino ...... ype information using SwissVar
@ast
Easy retrieval of single amino ...... ype information using SwissVar
@en
prefLabel
Easy retrieval of single amino ...... ype information using SwissVar
@ast
Easy retrieval of single amino ...... ype information using SwissVar
@en
P2093
P2860
P356
P1433
P1476
Easy retrieval of single amino ...... ype information using SwissVar
@en
P2093
Anaïs Mottaz
Anne-Lise Veuthey
Fabrice P A David
P2860
P304
P356
10.1093/BIOINFORMATICS/BTQ028
P407
P577
2010-01-26T00:00:00Z