PPT-Introduction to your genome

CSE291 Personal Genomics for Bioinformaticians 01 1017 The personal genomics revolution 23andMe gt1 million customers 200 Genographic Project gt800000 customers 150 Family Tree DNA . Shai. Carmi. Pe’er. lab, Columbia University. and. The Ashkenazi Genome Consortium (TAGC). Boston. September 2013. Outline. Ashkenazi Jewish (AJ) Genetics . and TAGC. Basic Variant Statistics. Utility in AJ Medical . Read Sequencing . Analysis. Jim Noonan. GENE 760. Sequence read lengths remain limiting. For most applications reads are . aligned. to a reference genome. Short reads contain inherently . limited information. 2. Some genomics history. 1995: first bacterial genome, . Haemophilus influenza. , 1.8 Mbp, sequenced at TIGR. first use of whole-genome shotgun for a bacterium. Fleischmann et al. 1995 became most-cited paper of the year (>3000 citations). Basic Biology: DNA. Genetic information is stored in . deoxyribonucleic acid (DNA) . molecules.. A single DNA molecule is a sequence of . nucleotides. adenine (. A. ). cytosine (. C. ). guanine (. G. Timetable for today. Time. Activity. 00:00. Introduction to the session. 00:10. Story cards . 00:20. Info cards. 00:30. Issue cards. 00:40. Discuss two key. issues. 00:45. Feedback your issues. What is DNA?. Next Generation Sequencing. Hanlee Ji, M.D. . ã . Stanford University. Overview. Principles of next generation . DNA sequencing. Analysis of genetic variation and research applications. 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.. Key considerations:. Genes . Chromosomes. C value paradox. Gene regulation. Epigenetics. Transposable elements. DNA . ……..……..mRNA……….…….Protein . Plant . Estimated # genes. Arabidposis. Key considerations:. Genes . Chromosomes. C value paradox. Gene regulation. Epigenetics. Transposable elements. DNA . ……..……..mRNA……….…….Protein . Plant . Estimated # genes. Arabidposis. Dr. Vladimir Teif. BS222 – Genome Science Lecture 1. Welcome to BS222 Genome Science!. Meet your lecturers. Vladimir Teif. (module supervisor). Leonard . Schalkwyk. Patrick . Varga-Weisz. Jordi . Paps. and . evidence-based gene finding . 12/2021. Wilson Leung. Outline. Overview of computational gene predictions. Different types of eukaryotic gene predictors. Common types of gene prediction errors. Computational gene predictions. G-OnRamp Beta Users Workshop. Wilson Leung. 07/2016. Outline. Obtain genome assemblies from NCBI. Transfer . large genomics datasets to Galaxy. Common bioinformatics file formats . D. atatypes in Galaxy. Vince Buonaccorsi. Juniata College. Cost of sequencing. https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost. Next (2. nd. ) Generation Sequencing. How does Illumina sequencing work?. emm1. invasive Group A . Streptococcus. isolated from Belgian patients during 1994˗2013 . J. Coppens. 1. , . B. B. . Xavier,. . J. Sabirova. 1. , C. Lammens. 1. , K. Loens. 2. , S. Malhotra-Kumar.