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Turing nucleotidecryptology
Turing nucleotidecryptology
ArtSci_center
a lecture in Workshop on : “Next Generation Sequencing: The Basic Principles and Data Analysis of RNA-Seq” 15-17 April 2014, Tehran, IRAN.
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Next Generation Sequencing (NGS) Is A Modern And Cost Effective Sequencing Technology Which Enables Scientists To Sequence Nucleic Acids At Much Faster Rate. In This Presentation, You Will Learn About What is NGS, Idea Behind NGS, Methodology And Protocol, Widely Adapted NGS Protocols, Applications And References For Further Study.
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Recommended
Turing nucleotidecryptology
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ArtSci_center
a lecture in Workshop on : “Next Generation Sequencing: The Basic Principles and Data Analysis of RNA-Seq” 15-17 April 2014, Tehran, IRAN.
Why Transcriptome? Why RNA-Seq? ENCODE answers….
Why Transcriptome? Why RNA-Seq? ENCODE answers….
Mohammad Hossein Banabazi
Next Generation Sequencing (NGS) Is A Modern And Cost Effective Sequencing Technology Which Enables Scientists To Sequence Nucleic Acids At Much Faster Rate. In This Presentation, You Will Learn About What is NGS, Idea Behind NGS, Methodology And Protocol, Widely Adapted NGS Protocols, Applications And References For Further Study.
Next Generation Sequencing (NGS)
Next Generation Sequencing (NGS)
LOGESWARAN KA
Introduction to next generation sequencing (NGS); NGS data; data management of NGS data; third generation sequencing; NGS pipelines; NGS experimental design
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Alignment algorithms are not just about placing reads in best-matching locations to a reference genome. They are now being expected to handle small insertions, deletions, gapped alignment of reads across intron boundaries and even span breakpoints of structural variations, fusions and copy number changes. At the same time, variant-calling algorithms can only reach their full potential by being intimately matched to the aligner's output or by doing local assemblies themselves. Knowing when these tools can be expected to perform well and when they will produce technical artifacts or be incapable of detecting features is critical when interpreting any analysis based on their output. This presentation will compare the performance of the alignment and variant calling tools used by sequencing service providers including Illumina Genome Network, Complete Genomics and The Broad Institute. Using public samples analyzed by each pipeline, we will look at the level of concordance and dive into investigating problematic variants and regions of the genome.
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SANGER SEQUENCING - 1st generation sequencing Sanger Sequencing Workflow: PCR amplification (target enrichment) PCR purification (primer, dNTPs) Sequencing reaction (bi-directional) Sequencing purification (primer, dNTPs, ddNTPs) Electrophoretic run on sequencer Sequencing lecture Alignment to reference SANGER SEQUENCING: LIMITATIONS Analytical sensitivity*: 99% PCR-Based no detection deletion/duplication rearrangements del/dup BRCA = 4-28% of all BRCA mutations in most population** Level of mosaicism > 20% Low throughput (82496 capillary tubes) Labor intensive Time consuming High cost (large size gene or more genes)
20160219 - S. De Toffol - Dal Sanger al NGS nello studio delle mutazioni BRCA