PPT-CSER Clinical Sequencing Exploratory Research

19 May 2014 Jim Evans MD PhD University of North Carolina at Chapel Hill Accomplishments Challenges and Opportunities Green amp Guyer Nature 4702042011 Medical Science Clinical Care. 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 . Summer 2015. True or false?. A student’s college major determines her or his career path. False!. Got Evidence?. 2006 Study. 80,574 students - 87 colleges - 5 years. Good grades closely related to having a major close to one’s . Implications for Practice. kai.petersen@bth.se. Exploratory. testing. Definition. How it is . used in industry. How it performs in . comparison . with . scripted testing. Implications . for practice. DNA sequencing. How we obtain the sequence of nucleotides of a species. …ACGTGACTGAGGACCGTG. CGACTGAGACTGACTGGGT. CTAGCTAGACTACGTTTTA. TATATATATACGTCGTCGT. ACTGATGACTAGATTACAG. ACTGATTTAGATACCTGAC. Learning Objectives. Recap how DNA probes and DNA hybridisation is used to locate specific genes.. Learn how the exact order of nucleotides on a strand of DNA can be determined.. Learn how restriction mapping can be used to determine nucleotide sequences.. 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. Dan . Russell. The past, present, and future of DNA . sequencing*. Dan . Russell. *DNA sequencing:. D. etermining the number and order of nucleotides that make up a given molecule of DNA.. (Relevant) Trivia. Craig A. . Praul. Co- Director . Genomics Core Facility. Huck Institutes of the Life Sciences. Penn State University. A very short history of DNA sequencing. I started from the conviction that, if different DNA species exhibited . :. 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. Dr Gavin Band. Wellcome. Trust Advanced Courses; Genomic Epidemiology in Africa. , . 21. st. – 26. th. June 2015. Africa . Centre for Health and Population Studies, University of KwaZulu-Natal, Durban, South Africa. 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 . Lenka Veselovská. Laboratory of Developmental Biology and Genomics . Next Generation Sequencing (NGS) . M. odern high-throughput DNA sequencing technologies. parallel, rapid . Decreasing price, time, workflow complexity, error rate. Hardison. Genomics . 3_2. 1. 1/20/14. Second generation sequencing. Michael . Metzker. review. (2010) Nature Reviews Genetics . 11. : 31-46. 1/20/14. 2. Two generations of sequencing technology. Feature. - . INTRODUCTION. - SANGER DIDEOXY METHOD. - AUTOMATED SEQUENCING. - NEXT. GENERATION OF SEQUENCING METHODS. MISS NUR SHALENA SOFIAN. INTRODUCTION. 1977:. . Frederick Sanger along with Allan . Maxam.