Genomic Disorders pdf epub mobi txt 电子书 下载 2025
- 基因组疾病
- 基因组学
- 遗传学
- 医学遗传学
- 染色体异常
- 基因突变
- 罕见病
- 诊断
- 分子生物学
- 基因组变异
具体描述
This work is 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.
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