An edition of Genomic disorders (2006)
Genomic disorders
the genomic basis of disease
By James R. Lupski
Publish Date
2006
Publisher
Humana Press,Humana
Language
eng
Pages
435
Description:
A 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.