about
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressLessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.Residue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes.DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indelsImpact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.Characterisation and validation of insertions and deletions in 173 patient exomesVariation Interpretation Predictors: Principles, Types, Performance, and Choice.SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteinsScripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.VaRank: a simple and powerful tool for ranking genetic variantsHMMvar-func: a new method for predicting the functional outcome of genetic variants.SIFT web server: predicting effects of amino acid substitutions on proteinsPExFInS: An Integrative Post-GWAS Explorer for Functional Indels and SNPsNext-Generation Sequencing in the Genetics of Human Atrial Fibrillation.Sequence context of indel mutations and their effect on protein evolution in a bacterial endosymbiontPersonalized genomic disease risk of volunteers.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).Measuring Accelerated Rates of Insertions and Deletions Independent of Rates of Nucleotide Substitution.Genome-scale characterization of RNA tertiary structures and their functional impact by RNA solvent accessibility prediction.Epigenetic regulation of Plasmodium falciparum clonally variant gene expression during development in Anopheles gambiae.Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.Next-generation sequencing for mitochondrial disordersNext-generation sequencing: ready for the clinics?Deciphering oncogenic drivers: from single genes to integrated pathways.GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.Three indel variants in chicken LPIN1 exon 6/flanking region are associated with performance and carcass traits.Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.Evolution of intrinsic disorder in eukaryotic proteins.Predicting the combined effect of multiple genetic variantsEffects of short indels on protein structure and function in human genomesQuantitative prediction of the effect of genetic variation using hidden Markov modelsWhen loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.Discriminating between deleterious and neutral non-frameshifting indels based on protein interaction networks and hybrid properties.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
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2012年論文
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2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
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2012年论文
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name
Predicting the effects of frameshifting indels
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Predicting the effects of frameshifting indels
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Predicting the effects of frameshifting indels
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Predicting the effects of frameshifting indels
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type
label
Predicting the effects of frameshifting indels
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Predicting the effects of frameshifting indels
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Predicting the effects of frameshifting indels
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Predicting the effects of frameshifting indels
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prefLabel
Predicting the effects of frameshifting indels
@ast
Predicting the effects of frameshifting indels
@en
Predicting the effects of frameshifting indels
@en-gb
Predicting the effects of frameshifting indels
@nl
P2860
P3181
P356
P1433
P1476
Predicting the effects of frameshifting indels
@en
P2093
P2860
P2888
P3181
P356
10.1186/GB-2012-13-2-R9
P407
P577
2012-01-01T00:00:00Z
P5875
P6179
1025713861