Chapter

Genomic Architecture and Copy Number Changes

Moyra Smith

in Phenotypic Variation

Published on behalf of Oxford University Press

Published in print February 2011 | ISBN: 9780195379631
Published online October 2012 | e-ISBN: 9780199975211 | DOI: http://dx.doi.org/10.1093/med/9780195379631.003.0003
Genomic Architecture and Copy Number Changes

More Like This

Show all results sharing these subjects:

  • Clinical Genetics
  • Clinical Cytogenetics and Molecular Genetics

GO

Show Summary Details

Preview

This chapter discusses genomic architecture and copy number changes, including the role of genome architecture changes in evolution, generation of novel gene families through segmental duplication during evolution, genomes as complex mosaics of different segments, development of segmental duplication maps using sequence data, common and rare copy number variants, recurrent copy number variants and phenotype, mechanisms through which cnvs impact phenotype: effect on the transcriptome, variable phenotypes associated with copy number variants, overlap between different psychiatric phenotypes penetrance and contribution to complex inheritance, phenotype in microdeletion syndromes, altered gene dosage, altered homeostasis, and overlapping neurological symptoms, gene-dosage-attributable ocular phenotypes, the phenotype in telomeric and subtelomeric chromosome abnormalities, and telomeres: structure, synthesis and defects

Chapter.  6549 words.  Illustrated.

Subjects: Clinical Genetics ; Clinical Cytogenetics and Molecular Genetics

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.