Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.
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Advances in understanding - genetic basis of intellectual disabilityDisease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseasesLoss-of-Function Mutations in APPL1 in Familial Diabetes MellitusChallenges of Identifying Clinically Actionable Genetic Variants for Precision MedicineProgress in methods for rare variant associationGenetic variation of the whole ICAM4 gene in Caucasians and African AmericansBig Data Analytics for Genomic MedicineIntegrative visual analysis of protein sequence mutations.In Silico Functional Annotation of Genomic Variation.Pharmacogenomics of neuropsychiatric disorders: analysis of genetic variability in 162 identified neuroreceptors using 1000 Genomes Project data.Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspectiveDiagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.Single nucleotide variations: biological impact and theoretical interpretation.FLAGS, frequently mutated genes in public exomes.Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteinsLinking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaInterpreting human genetic variation with in vivo zebrafish assays.Systematic Mapping of Protein Mutational Space by Prolonged Drift Reveals the Deleterious Effects of Seemingly Neutral MutationsCase-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.Alpha Helices Are More Robust to Mutations than Beta StrandsAssociation of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern IndiaMachine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEEClinical exome sequencing in neurogenetic and neuropsychiatric disordersClinical exome sequencing in neurologic disease.An extended set of yeast-based functional assays accurately identifies human disease mutations.Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian familyAdvantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.Early Diagnosis of Sepsis: Is an Integrated Omics Approach the Way Forward?Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests.Computational approaches for predicting mutant protein stability.BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms.Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy.A phenotype centric benchmark of variant prioritisation tools.Molecular dynamics recipes for genome research.
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Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Congruency in the prediction o ...... te-of-the-art web-based tools.
@en
type
label
Congruency in the prediction o ...... te-of-the-art web-based tools.
@en
prefLabel
Congruency in the prediction o ...... te-of-the-art web-based tools.
@en
P2860
P356
P1476
Congruency in the prediction o ...... te-of-the-art web-based tools.
@en
P2093
Stefano Castellana
Tommaso Mazza
P2860
P304
P356
10.1093/BIB/BBT013
P577
2013-03-15T00:00:00Z