Genomic Disorders
The Genomic Basis of Disease
James R Lupski editor Pawel T Stankiewicz editor
Format:Paperback
Publisher:Humana Press Inc.
Published:9th Dec '10
Currently unavailable, and unfortunately no date known when it will be back
A Grand Survey of Genetic Diseases Caused by DNA Rearrangements by the Human Genome
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. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.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.
"...an attempt to bridge the gap between genomic technology and clinical applications of genomic knowledge." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars
"...a unique contribution in a very specialized field." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars
ISBN: 9781617376429
Dimensions: unknown
Weight: unknown
426 pages
Softcover reprint of hardcover 1st ed. 2006