Publisher description for Genomic disorders : the genomic basis of disease / edited by James R. Lupski, Pawe Stankiewicz.
Bibliographic record and links to related information available from the Library of Congress catalog
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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Library of Congress subject headings for this publication:
Genetic disorders -- Molecular aspects.
Genetic Diseases, Inborn.
Genomics -- methods.