ENGLISH

Genomic Disorders: The Genomic Basis of Disease

By James R. Lupski , Pawel T. Stankiewicz

Book information

Publisher
Humana Press
Year
2006
ISBN
9781588295590, 1588295591, 1597450391
LCC
RB155.5 .G465 2006
Open Library ID
OL22732630M
Language
english
Format
PDF
Filesize
7 MB (6864430 bytes)
Edition
1
Pages
446\446
Time added
2010-05-17 00:23:50

Description

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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