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10.1371/journal.pone.0138259 http://scihub22266oqcxt.onion/10.1371/journal.pone.0138259 C4575192!4575192 !26382624     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26382624 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       PLoS+One 2015 ; 10 (9 ): e0138259 Nephropedia Template TP {{tp|p=26382624 |t=2015. Robustness of Massively Parallel Sequencing Platforms |pdf=|usr=}}{{26382624 }} gab.com Text Robustness of Massively Parallel Sequencing Platforms JO: PLoS One http://www.kidney.de/pget.php?&tw=1&pmid=26382624 #FOAvip The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS based analyses, the usability of these types of data for diagnostic and prognostic applications necessitates a near perfect data generation. To assess the usability of a widely used HTS platform for accurate and reproducible clinical applications in terms of robustness, we generated whole genome shotgun (WGS) sequence data from the genomes of two human individuals in two different genome sequencing centers. After analyzing the data to characterize SNPs and indels using the same tools (BWA, SAMtools, and GATK), we observed significant number of discrepancies in the call sets. As expected, the most of the disagreements between the call sets were found within genomic regions containing common repeats and segmental duplications, albeit only a small fraction of the discordant variants were within the exons and other functionally relevant regions such as promoters. We conclude that although HTS platforms are sufficiently powerful for providing data for first-pass clinical tests, the variant predictions still need to be confirmed using orthogonal methods before using in clinical applications. Twit Text FOAVip Robustness of Massively Parallel Sequencing Platforms ????PLoS One http://www.kidney.de/pget.php?&tw=1&pmid=26382624 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26382624 #FOAvip English Wikipedia <ref>{{Cite pmid|26382624 }}</ref> Robustness of Massively Parallel Sequencing Platforms #MMPMID26382624 Kavak P ; Yüksel B ; Aksu S ; Kulekci MO ; Güngör T ; Hach F ; ?ahinalp SC ; Alkan C ; Sa??ro?lu M? PLoS One 2015[]; 10 (9 ): e0138259 PMID26382624 show ga The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS based analyses, the usability of these types of data for diagnostic and prognostic applications necessitates a near perfect data generation. To assess the usability of a widely used HTS platform for accurate and reproducible clinical applications in terms of robustness, we generated whole genome shotgun (WGS) sequence data from the genomes of two human individuals in two different genome sequencing centers. After analyzing the data to characterize SNPs and indels using the same tools (BWA, SAMtools, and GATK), we observed significant number of discrepancies in the call sets. As expected, the most of the disagreements between the call sets were found within genomic regions containing common repeats and segmental duplications, albeit only a small fraction of the discordant variants were within the exons and other functionally relevant regions such as promoters. We conclude that although HTS platforms are sufficiently powerful for providing data for first-pass clinical tests, the variant predictions still need to be confirmed using orthogonal methods before using in clinical applications. |*INDEL Mutation [MESH] |*Polymorphism, Single Nucleotide [MESH] |DNA/*genetics [MESH] |Genome, Human [MESH] |Genotyping Techniques [MESH] |High-Throughput Nucleotide Sequencing/economics/*methods [MESH] |Humans [MESH]Robustness of Massively Parallel Sequencing Platforms (epmc).pdf DeepDyve Pubget Overpricing