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10.1038/srep23910 http://scihub22266oqcxt.onion/10.1038/srep23910 C4817143!4817143 !27032803     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27032803 &cmd=llinks): Failed to open stream: HTTP request failed! 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Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel |pdf=|usr=}}{{27032803 }} gab.com Text Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel JO: Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=27032803 #FOAvip Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal Dystrophies (IRD) such as the high clinical and genetic heterogeneity and the overlapping phenotypes. The purpose of this study was the identification of the genetic defect in 32 Spanish families with different forms of IRD. With that aim, we implemented a custom NGS panel comprising 64 IRD-associated genes in our population, and three disease-associated intronic regions. A total of 37 pathogenic mutations (14 novels) were found in 73% of IRD patients ranging from 50% for autosomal dominant cases, 75% for syndromic cases, 83% for autosomal recessive cases, and 100% for X-linked cases. Additionally, unexpected phenotype-genotype correlations were found in 6 probands, which led to the refinement of their clinical diagnoses. Furthermore, intra- and interfamilial phenotypic variability was observed in two cases. Moreover, two cases unsuccessfully analysed by exome sequencing were resolved by applying this panel. Our results demonstrate that this hypothesis-free approach based on frequently mutated, population-specific loci is highly cost-efficient for the routine diagnosis of this heterogeneous condition and allows the unbiased analysis of a miscellaneous cohort. The molecular information found here has aid clinical diagnosis and has improved genetic counselling and patient management. Twit Text FOAVip Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel ????Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=27032803 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27032803 #FOAvip English Wikipedia <ref>{{Cite pmid|27032803 }}</ref> Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel #MMPMID27032803 Bravo-Gil N ; Méndez-Vidal C ; Romero-Pérez L ; González-del Pozo M ; Rodríguez-de la Rúa E ; Dopazo J ; Borrego S ; Antiñolo G Sci Rep 2016[Apr]; 6 (ä): 23910 PMID27032803 show ga Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal Dystrophies (IRD) such as the high clinical and genetic heterogeneity and the overlapping phenotypes. The purpose of this study was the identification of the genetic defect in 32 Spanish families with different forms of IRD. With that aim, we implemented a custom NGS panel comprising 64 IRD-associated genes in our population, and three disease-associated intronic regions. A total of 37 pathogenic mutations (14 novels) were found in 73% of IRD patients ranging from 50% for autosomal dominant cases, 75% for syndromic cases, 83% for autosomal recessive cases, and 100% for X-linked cases. Additionally, unexpected phenotype-genotype correlations were found in 6 probands, which led to the refinement of their clinical diagnoses. Furthermore, intra- and interfamilial phenotypic variability was observed in two cases. Moreover, two cases unsuccessfully analysed by exome sequencing were resolved by applying this panel. Our results demonstrate that this hypothesis-free approach based on frequently mutated, population-specific loci is highly cost-efficient for the routine diagnosis of this heterogeneous condition and allows the unbiased analysis of a miscellaneous cohort. The molecular information found here has aid clinical diagnosis and has improved genetic counselling and patient management. |*DNA Copy Number Variations [MESH] |*Mutation [MESH] |Alleles [MESH] |Computer Simulation [MESH] |DNA Mutational Analysis [MESH] |Eye Proteins/genetics [MESH] |Gene Library [MESH] |Genetic Association Studies [MESH] |Genetic Heterogeneity [MESH] |Genetic Therapy/*methods [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH] |Phenotype [MESH]Improving the management of Inherited Retinal Dystrophies by targeted (epmc).pdf DeepDyve Pubget Overpricing