rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    non sort: The
    title: human genome in health and disease
    sub title: a story of four letters
  name:
    name part: Samuelsson, Tore
    name part: 1951-
    role:
      role term: creator
    role:
      role term: author.
  type of resource: text
  genre: bibliography
  origin info:
    place:
      place term: flu
    date issued: 2019
    copyright date: 2019
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: print
    extent: xiii, 283 pages : chiefly color illustrations ; 28 cm.
  abstract: The human genome is a linear sequence of roughly three billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome.
  table of contents: A molecular disorder -- A code of life -- The genome -- Variants in the human genome sequence and their biological significance -- The critical protein coding sequences -- Triplet repeats and neurodegenerative disorders -- The untranslated parts of a message -- Exons, introns, and a royal bleeding disorder -- The regulation of transcription -- The noncoding RNAs -- Computational methods are critical in the analysis of molecular sequences -- Diagnosing the genome -- Correcting genome errors.
  note: Tore Samuelsson.
  note: "A Garland Science book."
  note: Includes bibliographical references and index.
  subject:
    topic: Human genome
  subject:
    topic: Human gene mapping
  subject:
    topic: Genome, Human
  subject:
    topic: Disease
    topic: genetics
  classification: QH447 .S36 2019
  classification: 611/.0181663
  classification: QU 460
  identifier: 9780815345916
  identifier: 0815345917
  identifier: 9780367076337
  identifier: 0367076330
  identifier: 9780429021732
  identifier: 2018040829
  record info:
    record content source: DLC
    record creation date: 180824
    record change date: 20200420141533.0
    record identifier: in00004135694