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Copy number variation in health and susceptibility to disease

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0004
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

In this chapter submicroscopic structural variation is described with a particular focus on copy number variation. There is a growing body of evidence to show that copy number variation is a common ... More


Human Genetic Diversity: Functional Consequences for Health and Disease

Julian C. Knight

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
book
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.001.0001
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

This book describes the remarkable progress which has been made in defining the extent and nature of human genetic variation, and its many consequences for us as individuals and in understanding ... More


Cytogenetics and large scale structural genomic variation

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0003
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

Cytogenetics has played a fundamental role in advancing our understanding of human genetic variation. Advances in this field are set in a historical context, describing the microscopically visible ... More


Submicroscopic structural variation and genomic disorders

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0005
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

In this chapter the basis and nature of genomic disorders are described with examples including DiGeorge Syndrome, Williams-Beuren syndrome, Charcot Marie Tooth disease, Prader-Willi, and Angelman ... More


Structural variation

Joel T. Dudley

in Exploring Personal Genomics

Published in print:
2013
Published Online:
December 2013
ISBN:
9780199644483
eISBN:
9780191774577
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199644483.003.0011
Subject:
Biology, Evolutionary Biology / Genetics

This chapter discusses another unexplored class of variants: large-scale variants known as structural variants. Structural variants (SVs) are variants that are large enough that they are capable of ... More


Variation

Hans-Jörg Schmid

in The Dynamics of the Linguistic System: Usage, Conventionalization, and Entrenchment

Published in print:
2020
Published Online:
February 2020
ISBN:
9780198814771
eISBN:
9780191852466
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780198814771.003.0018
Subject:
Linguistics, Theoretical Linguistics, Psycholinguistics / Neurolinguistics / Cognitive Linguistics

This chapter discusses how the Entrenchment-and-Conventionalization Model explains language variation. It sifts the various contributions of the components of the model for elements that are ... More


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