Translational research in genetics and genomics - Smith, Moyra (Oxford University Press, 2008)
Includes bibliographical references (p. 179-206) and index
Isolation of disease genes through genomics -- Advances in genome analysis : discovery of structural variation and genomic dosage differences in health and disease -- Significance of DNA sequence changes for diagnosis and therapy -- Epigenetics -- Complex diseases : molecular genetic contributions to elucidation of etiopathogenesis of late-onset neurodegenerative diseases -- Advances in treatment of single gene disorders through translational science : treatment with small molecules (chaperones), and gene-based therapies -- From gene discovery in genetic syndromes to identification of therapeutic agents -- Impact of the environment on the genome -- Molecular defects in cancer : application to therapy -- Pharmacogenetics and pharmacogenomics -- Phenomes, phenotypes, and clinical genetic services