PPT-Introduction to Short Read Sequencing Analysis

James Knight with many slides adapted from Jim Noonan GENE 760 R ule to remember when using bioinformatics t ools Computer scientists and mathematiciansstatisticians make simplifications to speed up computations or to create a robust statistical model. Mayo/UIUC Summer . C. ourse in Computational Biology. Session Outline. Genome sequencing. Schematic overview of genome assembly. (a) DNA is collected from the biological sample and sequenced. (b) The output from the sequencer consists of many billions of short, unordered DNA fragments from random positions in the genome. (c) The short fragments are compared with each other to discover how they overlap. (d) The overlap relationships are captured in a large assembly graph shown as nodes representing . Dan . Russell. Overview. Prologue: Assembly and Finishing. The Past: Sanger. The Present: Next-Gen (454, . Illumina. , …). The Future: ? (. Nanopore. , . MinION. , Single-molecule). Overview. Prologue: Assembly and Finishing. Assembly, and Alignment Methods . Andy Nagar. Agenda. Background. Next Generation Sequencing. Sequence Assembly. Sequence Alignment. Traditional Alignment Algorithms. Next Generation Alignment Algorithms. :. informatics & software aspects. Gabor T. Marth. Boston College Biology . Department. BI543 Fall 2013. January 29, 2013. Traditional DNA sequencing. Genetics of living organisms. DNA. Chromosomes. INTRODUCTION . The most commonly used technology until a few years ago – BAC. WHOLE GENOME SEQUENCING. ADVANTAGES OF WGS. Utility of next – gen sequence reads . The next-generation platforms are effecting a complete paradigm shift, not only in the organization of large-scale data production, but also in the downstream bioinformatics, IT, and LIMS support required for high data utility and correct interpretation.. Jim Noonan. GENE 760. Sequence read lengths remain limiting. For most applications reads are . aligned. to a reference genome. Short reads contain inherently limited information. De novo . assembly of short reads is difficult. (very) large datasets. 5/23/17. Goals for the course. Understand how next-generation sequencing technologies are used in biomedical research. Learn how to use publicly available databases/websites to find specific information about genes. - . INTRODUCTION. - SANGER DIDEOXY METHOD. - AUTOMATED SEQUENCING. - NEXT. GENERATION OF SEQUENCING METHODS. MISS NUR SHALENA SOFIAN. INTRODUCTION. 1977:. . Frederick Sanger along with Allan . Maxam. (very) large datasets. 5/24/18. Goals for the course. Understand how next-generation sequencing technologies are used in biomedical research. Learn how to use publicly available databases/websites to find specific information about genes. :. Computational Analysis of the Current State, Bottlenecks and Future Directions. Damla Senol. 1. , Jeremie Kim. 1,3. , Saugata Ghose. 1. , Can Alkan. 2. and Onur . Mutlu. 3,1. Nanopore Sequencing. David . Tse. . Dept. of EECS. U.C. Berkeley. LIDS Student Conference. MIT. Feb. 2, 2012. Research supported by NSF Center for Science of Information.. TexPoint fonts used in EMF: . A. A. A. A. A. A. DNA Replication Review. Enzymes open . double stranded DNA. Origin of replication. Replication fork. DNA replication in 5’ to 3’ direction. Leading and Lagging Strands. RNA primers. DNA polymerase. Vince Buonaccorsi. Juniata College. Cost of sequencing. https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost. Next (2. nd. ) Generation Sequencing. How does Illumina sequencing work?. the DNA sequencing?. DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule. . The . sequence tells scientists the kind of genetic information that is carried in a particular DNA segment.