PPT-Comparison of University of Washington and Broad Institute exome sequencing of NA12878

ESP Meeting April 6 2010 1 Executive Summary Sequenced sample NA12878 at University of Washington UW and the Broad Institute BI shared the resulting data and compared SNP calls Once a common postsequencingandalignment analysis strategy is applied UW and BI callsets . 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 . 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 . None Narrow Narrow Broad Broad Broad Narrow Broad Narrow None Narrow Narrow BroadNone Broad None Narrow Broad None Broad None Broad NarrowNoneNarrowNarrow Narrow Broad Narrow NarrowBroad Narrow Broad The FDSN and Sustainable Seismic Networks. Gerardo. . Su. árez. Instituto de Geofísica, UNAM. México. Federation of Digital Broad-Band Seismograph Networks. The FDSN: Origins. Founded in 1985 to bring together digital broad-. 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. 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 . Comedy Central hit show . Broad City . returns for season 4 and stars Abbi Jacobson and Ilana Glazer as 20-something best friends who are trying to navigate life in New York, despite that their adventures always seem to lead down unexpected and bizarre paths. They have very little money, but they are survivors who aren't afraid to throw themselves into sticky situations, no matter how messy the end results may be. . (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. On the role of genomic medicine in the practice of neurology, an update. The last 15 years set the stage for . g. enomic medicine. First Human Genome sequencing:. 6 to 8 years. $1 billion. Completed April 14, 2003. (on the path to precision medicine). Raphael Bernier, PhD. Professor, Department . of . Psychiatry. Clinical . Director, Seattle Children’s . Autism Center. Associate Director, Center on Human Development and . Advances in the Genetic Diagnosis of the Cerebellar Ataxias. Brent L. Fogel, M.D., Ph.D. .. Associate Professor. UCLA Department of Neurology. Program in . Neurogenetics. David Geffen School of Medicine . Gloria T. Haskell. 1. , Brian C. . Jensen. 3. , Cecile Skyrzynia. 1. , Daniel S. . Marchuk. 1. , . Leigh Ann Samsa. 3. , Wei Huang. 3. , Chris Bizon. 2. , Kirk C. Wilhelmsen. 1,2. , Karen Weck. . 1. 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?. spectrum. (Ref: OMIM 300163). Strehle EM. Johnson K. Rakocevic-. Stojanovic V. Peric S. Milenkovic S. Farrugia ME. Longman C. Straub V. Introduction. The . FHL1. gene encodes the Four and a half LIM domains protein 1. LIM domains were first identified in the .