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    NGS For Diagnosis of Epilepsy Syndromes: Dr. Pragasam Viswanathan Professor, SBST

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    Maru Mengesha Worku 18BBT0285
    This document discusses using next-generation sequencing (NGS) for the diagnosis of epilepsy syndromes. It notes that epilepsy can begin at different stages of life and is diagnosed through EEG, neurological imaging like MRI/CT, and DNA sequencing. The document provides a brief history of sequencing technologies, from 1st generation sequencing using gels/capillary tubes to current 2nd generation sequencing techniques that can sequence millions of molecules in parallel using reversible chemistries on immobilized templates. It outlines the basic NGS workflow of sample preparation, fragmentation, amplification via emulsion or bridge PCR, and different sequencing methods like pyrosequencing, sequencing-by-ligation, and sequencing-by-synthesis.

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    NGS For Diagnosis of Epilepsy Syndromes: Dr. Pragasam Viswanathan Professor, SBST

    Uploaded by

    Maru Mengesha Worku 18BBT0285
    22 views9 pages
    This document discusses using next-generation sequencing (NGS) for the diagnosis of epilepsy syndromes. It notes that epilepsy can begin at different stages of life and is diagnosed through EEG, neurological imaging like MRI/CT, and DNA sequencing. The document provides a brief history of sequencing technologies, from 1st generation sequencing using gels/capillary tubes to current 2nd generation sequencing techniques that can sequence millions of molecules in parallel using reversible chemistries on immobilized templates. It outlines the basic NGS workflow of sample preparation, fragmentation, amplification via emulsion or bridge PCR, and different sequencing methods like pyrosequencing, sequencing-by-ligation, and sequencing-by-synthesis.

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    This document discusses using next-generation sequencing (NGS) for the diagnosis of epilepsy syndromes. It notes that epilepsy can begin at different stages of life and is diagnosed through EEG, neurological imaging like MRI/CT, and DNA sequencing. The document provides a brief history of sequencing technologies, from 1st generation sequencing using gels/capillary tubes to current 2nd generation sequencing techniques that can sequence millions of molecules in parallel using reversible chemistries on immobilized templates. It outlines the basic NGS workflow of sample preparation, fragmentation, amplification via emulsion or bridge PCR, and different sequencing methods like pyrosequencing, sequencing-by-ligation, and sequencing-by-synthesis.

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    22 views9 pages

    NGS For Diagnosis of Epilepsy Syndromes: Dr. Pragasam Viswanathan Professor, SBST

    Uploaded by

    Maru Mengesha Worku 18BBT0285
    This document discusses using next-generation sequencing (NGS) for the diagnosis of epilepsy syndromes. It notes that epilepsy can begin at different stages of life and is diagnosed through EEG, neurological imaging like MRI/CT, and DNA sequencing. The document provides a brief history of sequencing technologies, from 1st generation sequencing using gels/capillary tubes to current 2nd generation sequencing techniques that can sequence millions of molecules in parallel using reversible chemistries on immobilized templates. It outlines the basic NGS workflow of sample preparation, fragmentation, amplification via emulsion or bridge PCR, and different sequencing methods like pyrosequencing, sequencing-by-ligation, and sequencing-by-synthesis.

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    NGS for diagnosis of Epilepsy

    Syndromes

    Dr. Pragasam Viswanathan


    Professor, SBST
    Epilepsy can be defined as a chronic seizure disorder or group
    of disorders characterized by seizures that usually recur
    unpredictably in the absence of a consistent provoking factor.

    Epilepsy is not contagious


    it is not a mental illness
    or a cognitive disability.

    The neurological dysfunction seen in epilepsy can :


     begin at birth
     childhood

     adolescence or

     even in adulthood
    DIAGNOSIS
    • Electroencephalogram
    (EEG)
    • Neurological imaging studies
    *Magnetic Resonance Imaging
    (MRI)
    *Functional MRI (fMRI)
    *Computed Tomography (CT)
    *Positron emission tomography
    (PET)
    *Single-photon emission
    computerized tomography
    (SPECT)
    DNA SEQUENCING
     DNA Sequencing is Figuring out the order of
    DNA nucleotides, or bases (A T G C ), in a genome
    that make up an organism’s DNA.
    Sangar
    Sequencing

    F. Sangar
    ERA OF SEQUENCING
    1st Generation sequencing ABI PRISM 377
    • Sequence many identical molecules
    • Sequencing in large gels or capillary tubing
    limits scale

    Sangar Chain Termination Maxam- Gilbert Sequencing


    ( 1977 ) (1977)
    ERA OF SEQUENCING
    5

    1st Generation Sequencing 2nd Generation Sequencing

    • Sequence many identical • Sequence millions of


    molecules clonally amplified molecules
    per run QIAGEN GeneReader
    • Sequencing in large gels or
    capillary tubing limits scale • Using a reversible,
    stepwise sequencing
    chemistry
    • Immobilized on a surface

    Illumina MiSeq
    Life Technologies/Applied Roche / 454
    Biosystems; SOLID 5500 Pyrosequencer
    Intro to NGS, 11.30.2016
    NEXT GENERATION SEQUENCING
    High throughput DNA Sequencing Technique.
    Employs Micro and Nanotechnologies
    Reduce sample size.
    Low Reagent cost
    Less Time
    Massive Parallel Sequencing
    Sequence thousands of sequences at once.
    Produce enormous amount of data .
    NGS WORKFLOW
    Sample Extraction , DNA fragmentation and invitro adapter ligation

    Clonal Amplification by Clonal Amplification by


    Emulsion PCR Bridge PCR

    Pyrosequencing Sequencing-by-ligation Sequencing-by-synthesis


    (454 Sequencing) (SOLiD Platform ) ( Solexa Technology)

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