PDF-DNA Sequencing & The Human Genome

Project An Endeavor R evolutionizing M odern B iology Jutta Marzillier PhD Lehigh University Biological Sciences November 13 th 2013 Guess who turned 60 earlier this year Guess who turn. 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 . From Swab to Publication. Madison I. Dunitz. 1. , David A. Coil. 1. , Jenna M. Lang. 1. , Guillaume Jospin. 1. , Aaron E. Darling. 2. , Jonathan A. Eisen. 1. UC Davis Genome Center. 1. University of California, Davis; . Last lecture summary. recombinant DNA technology. DNA polymerase (copy DNA), restriction endonucleases (cut DNA), ligases (join DNA). DNA cloning – vector (plasmid, BAC), PCR. genome mapping. relative locations of genes are established by following inheritance patterns. Method to sequence longer regions. cut many times at random (. Shotgun. ). genomic segment. Get one or two reads from each segment. ~500 bp. ~500 bp. Reconstructing the Sequence . (Fragment Assembly). 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. - . INTRODUCTION. - SANGER DIDEOXY METHOD. - AUTOMATED SEQUENCING. - NEXT. GENERATION OF SEQUENCING METHODS. MISS NUR SHALENA SOFIAN. INTRODUCTION. 1977:. . Frederick Sanger along with Allan . Maxam. DNA. Double helix. Bases. Sequence. Gene . Key words. Genome . Genome sequencing. Species . Human Genome Project. DNA. is found in the nucleus of a cell. It is a long molecule that carries a set of codes to make you unique.. Genome: the total number of genes in an individual.. Human Genome- approx. 20,000 genes on the 46 human chromosomes.. Human Genome Project (HGP). Ongoing effort to completely map and sequence our genome.. Nadia Khan, Rick Smith, . and Anna . Kuperman. Epigenetics 2012. Introduction. Most Genome Wide Approaches were adapted from technologies originally developed for detecting methylation at the level of a single gene. DNA polymerase (copy DNA), restriction endonucleases (cut DNA), ligases (join DNA). DNA cloning – vector (plasmid, BAC), PCR. genome mapping. relative locations of genes are established by following inheritance patterns. 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 . Knowing how many genes determine a phenotype (Mendelian and/or QTL analysis), and where the genes are located (linkage mapping) is a first step in understanding the genetic basis of a phenotype . A second step is determining the sequence of the gene (or genes). Figure 8.01. Sequencing—Fragments of All Possible Lengths. During chain termination or . Sanger sequencing. , the target DNA fragments are copied millions of times, but each copy ends at a different nucleotide position. These subsets of fragments end with a fluorescently-labeled nucleotide that reveal the identity of the final base. The final sequencing data are a series of fluorescent peaks that correspond to the original template .