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.
Genomic Disorders: The Genomic Basis of Disease
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"...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
From the Back Cover
It is now abundantly clear that architectural features of the human genome can lead to DNA rearrangements that cause both disease and behavioral traits. In Genomic Disorders: The Genomic Basis of Disease, distinguished experts and pioneers in the field of genomics and genome rearrangements summarize and synthesize the tremendous amount of data now available in the postgenomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to evolution and explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and 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. Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be the underlying cause or basis of many human traits and disorders.
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First Sentence:
I came to Houston, Texas in 1986 with one goal being to identify "the gene" for Charcot-Marie-Tooth (CMT) disease. Read the first page Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
inv peri, human segmental duplications, genomic disorders, nonallelic homologous recombination, ancestral centromere, inactivated centromere, dup chromosomes, centromere repositioning, genome architectural features, rearrangement hotspots, most common isochromosome, retrotransposition assay, inv dup, new centromere, bination reciprocal, pericentromeric duplications, telomere healing, cryptic inversions, human centromeric regions, rearrangement disorders, reciprocal chromosome painting, human neocentromere, human disease traits, telomere capture, genomic basis Key Phrases - Capitalized Phrases (CAPs): (learn more)
Hum Genet, Hum Mol Genet, Nat Genet, Med Genet, Genome Res, Proc Natl Acad Sci, Trends Genet, Biol Chem, Humana Press, Mol Cell Biol, The Genomic Basis of Disease Edited, New World, Old World, Nucleic Acids Res, Chromosome Res, Genes Chromosomes Cancer, Nat Rev Genet, Functional Aspects of Genome Structure, Genome Biol, Hum Mutat, Clin Genet, Cytogenet Cell Genet, Hum Mot Genet, Mol Biol Evol, Genes Dev New!
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Front Cover | Table of Contents | First Pages | Index | Back Cover | Surprise Me!
I came to Houston, Texas in 1986 with one goal being to identify "the gene" for Charcot-Marie-Tooth (CMT) disease. Read the first page Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
inv peri, human segmental duplications, genomic disorders, nonallelic homologous recombination, ancestral centromere, inactivated centromere, dup chromosomes, centromere repositioning, genome architectural features, rearrangement hotspots, most common isochromosome, retrotransposition assay, inv dup, new centromere, bination reciprocal, pericentromeric duplications, telomere healing, cryptic inversions, human centromeric regions, rearrangement disorders, reciprocal chromosome painting, human neocentromere, human disease traits, telomere capture, genomic basis Key Phrases - Capitalized Phrases (CAPs): (learn more)
Hum Genet, Hum Mol Genet, Nat Genet, Med Genet, Genome Res, Proc Natl Acad Sci, Trends Genet, Biol Chem, Humana Press, Mol Cell Biol, The Genomic Basis of Disease Edited, New World, Old World, Nucleic Acids Res, Chromosome Res, Genes Chromosomes Cancer, Nat Rev Genet, Functional Aspects of Genome Structure, Genome Biol, Hum Mutat, Clin Genet, Cytogenet Cell Genet, Hum Mot Genet, Mol Biol Evol, Genes Dev New!
Books on Related Topics | Concordance | Text Stats Browse Sample Pages:
Front Cover | Table of Contents | First Pages | Index | Back Cover | Surprise Me!
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