PPT-Human Sequencing

Stefano Lise Bioinformatics amp Statistical Genetics BSG Core The Wellcome Trust Centre for Human Genetics WTCHG Oxford Email stefanowelloxacuk Outline Human genetic variation in health and disease. 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 . Adam . Kutz. Kern . Walster. The task of sequencing genomes produces massive amounts of data. Traditional data transmission is becoming a bottleneck. Researchers storing data on Hard drives and shipping via . Sbi4up. Mrs. franklin. DNA Sequencing. DNA sequencing is a method commonly used by scientists to determine the nucleotide sequence for a particular gene. The Sanger sequencing method enables Frederick Sanger to determine the entire genome of a bacteriophage (5386 . 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. Assembly, and Alignment Methods . Andy Nagar. Agenda. Background. Next Generation Sequencing. Sequence Assembly. Sequence Alignment. Traditional Alignment Algorithms. Next Generation Alignment Algorithms. 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 . DNA sequencing. How we obtain the sequence of nucleotides of a species. …ACGTGACTGAGGACCGTG. CGACTGAGACTGACTGGGT. CTAGCTAGACTACGTTTTA. TATATATATACGTCGTCGT. ACTGATGACTAGATTACAG. ACTGATTTAGATACCTGAC. 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. A I . Bhat. Indian Institute of Spices Research. Calicut. DNA sequencing. Chain termination method . (. Sangers. . et a. l., 1977): In this method, the sequence of a single stranded DNA molecule is determined by enzymatic synthesis of complementary polynucleotide chains, these chains terminating at specific nucleotide positions.. 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. How we obtain the sequence of nucleotides of a species. …ACGTGACTGAGGACCGTG. CGACTGAGACTGACTGGGT. CTAGCTAGACTACGTTTTA. TATATATATACGTCGTCGT. ACTGATGACTAGATTACAG. ACTGATTTAGATACCTGAC. TGATTTTAAAAAAATATT…. Modified from Dan Russell. (Relevant) Trivia. How many base pairs (bp) are there in a human genome?. How many protein coding genes are in the Human genome. How much did it cost to sequence the first human genome?. . In the paper, researchers describe the final product of the Human Genome Project, which was the 13year effort to read the information encoded in the human chromosomes that reached its culmination i T – Its History and Advancements into New Research and Technology Jutta Marzillier , Ph.D Lehigh University Biological Sciences September 5 th , 2014 Objectives Techniques that enabled genome sequ