Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
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Practical aspects of NGS-based pathways analysis for personalized cancer science and medicineImportance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene FunctionsAnalysis of genetic variation and potential applications in genome-scale metabolic modelingMutations in POMGNT1 cause non-syndromic retinitis pigmentosaMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesNEK1 variants confer susceptibility to amyotrophic lateral sclerosisAdenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.Ensembl 2015POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing lossGenetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.Status quo of annotation of human disease variants.Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2)Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.Predicting survival in head and neck squamous cell carcinoma from TP53 mutation.Bioinformatic Analysis of GJB2 Gene Missense Mutations.CoagVDb: a comprehensive database for coagulation factors and their associated SAPsWbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma.Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.CerealsDB 3.0: expansion of resources and data integrationImpact of genetic variation on three dimensional structure and function of proteins.Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasetsWeb-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome dataThe Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing DataMutations in Human Accelerated Regions Disrupt Cognition and Social BehaviorSequence variations of the EGR4 gene in Korean men with spermatogenesis impairment.Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysisdbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.The functional significance of common polymorphisms in zinc finger transcription factorsHoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.Predicting the functional consequences of cancer-associated amino acid substitutions.The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineGermline mutations in MAP3K6 are associated with familial gastric cancerSuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features
P2860
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P2860
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Predicting the functional, mol ...... ons using hidden Markov models
@en
Predicting the functional, mol ...... ons using hidden Markov models
@nl
type
label
Predicting the functional, mol ...... ons using hidden Markov models
@en
Predicting the functional, mol ...... ons using hidden Markov models
@nl
prefLabel
Predicting the functional, mol ...... ons using hidden Markov models
@en
Predicting the functional, mol ...... ons using hidden Markov models
@nl
P2093
P2860
P50
P356
P1433
P1476
Predicting the functional, mol ...... ons using hidden Markov models
@en
P2093
Gary L A Barker
Hashem A Shihab
Ian N M Day
Keith J Edwards
Peter D Stenson
P2860
P356
10.1002/HUMU.22225
P577
2012-11-02T00:00:00Z