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By Lupski
Lupski, 2006
This work synthesizes extensive data from the post-genomic era, focusing on the structural features, architecture, and evolution of the human genome. The authors explore how these architectural characteristics may influence evolution and contribute to susceptibility to DNA rearrangements linked to disease. The book also presents technologies for assessing structural variation in the human genome and for modeling genomic disorders in mice. Two appendices provide detailed information on genomic disorders, including locus features, clinical manifestations, and detection frequencies.