PPT-Next Generation Sequencing

Lenka Veselovská Laboratory of Developmental Biology and Genomics Next Generation Sequencing NGS M odern highthroughput DNA sequencing technologies parallel rapid Decreasing price time workflow complexity error rate. Next-generation shotgun sequencing approaches require sequencing every base in a sample several times for two reasons: 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. DNA Sequencing. Platforms:. Evolving Tools for . Cancer Research. Norma Neff. Bioengineering / Quake Lab. Sequencing Core Director. Stem Cell Institute. SIM1 G1115 / G0821. nfneff@stanford.edu. Emulsion PCR-based Sequencing Technologies. Assembly, and Alignment Methods . Andy Nagar. Agenda. Background. Next Generation Sequencing. Sequence Assembly. Sequence Alignment. Traditional Alignment Algorithms. Next Generation Alignment Algorithms. Stefano . Lise. Bioinformatics & Statistical Genetics (BSG) Core. The . Wellcome. Trust Centre for Human Genetics (WTCHG), Oxford. Email: stefano@well.ox.ac.uk. Outline. Human genetic variation in health and disease. :. 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. Elaine R. . Mardis. – 11 . February. . 2008. Washington School of Medicine, Genome Sequencing Center.. Presented by . Jacob . Juhn. “If one accepts that the fundamental pursuit of genetics is to determine the genotypes that explain phenotypes, the meteoric increase of DNA sequence information applied toward that pursuit has nowhere to go but up.”. DNA sequencing. How we obtain the sequence of nucleotides of a species. …ACGTGACTGAGGACCGTG. CGACTGAGACTGACTGGGT. CTAGCTAGACTACGTTTTA. TATATATATACGTCGTCGT. ACTGATGACTAGATTACAG. ACTGATTTAGATACCTGAC.  . Nearly . all modern DNA sequencing procedures require a concentrated amount of . single-stranded . DNA known as a . template. . A template is simply a piece of DNA of . sufficient . length and quality to allow for its sequencing (most sequencing methods . Next-generation sequencing technology. Outline. First generation sequencing. Next generation sequencing (current). AKA: . Second generation sequencing. Massively parallel sequencing. Ultra high-throughput sequencing. Trajectory Trends Breakfast. July 2016. What future for Generation Z?. Why Generation Z?. 2016. By 2029, Gen Z will be the largest generational cohort. Source: Office of National Statistics, 2014 based National Population Projections. Clinical Implementation in CLIA/CAP facility. Shashikant Kulkarni, M.S (Medicine)., Ph.D., FACMG. Associate Professor of Pediatrics, Genetics, Pathology and Immunology. Medical Director of Genomics and Pathology Services. Alexandre . Gillet-. Markowska. Alexandre.gillet-markowska@upmc.fr. Gilles Fischer Team – . Biology. of . Genomes. . UMR7238. Laboratory . of Computational and Quantitative Biology. Université Pierre et Marie-Curie, Paris.