http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
xiii, 283 pages : chiefly color illustrations ; 28 cm.
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.
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.
Includes bibliographical references and index.