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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


Methods for DNA copy number derivations

Cameron Brennan

in Statistics and Informatics in Molecular Cancer Research

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199532872
eISBN:
9780191714467
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199532872.003.0002
Subject:
Mathematics, Probability / Statistics, Biostatistics

Chromosomal aberrations are a common form of mutation in cancer. Copy number profiling of tumour-derived DNA has proven to be a productive starting point for identifying novel cancer-relevant genes ... 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


Human genetic diversity and HIV

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/9780199227693.003.0014
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

Human genetic variation modulates susceptibility to infection with the human immunodeficiency virus (HIV) and progression to acquired immunodeficiency syndrome (AIDS) through diverse mechanisms ... More


Detection of Copy Number Variations from Array Comparative Genomic Hybridization Data Using Linear-chain Conditional Random Field Models

Xiaolin Yin and Jing Li

in Probabilistic Graphical Models for Genetics, Genomics, and Postgenomics

Published in print:
2014
Published Online:
December 2014
ISBN:
9780198709022
eISBN:
9780191779619
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780198709022.003.0016
Subject:
Mathematics, Probability / Statistics, Biostatistics

Copy number variation (CNV) accounts for roughly 12% of the human genome. Beside their inherent role in cancer development, CNVs have been reported to underlie susceptibility to complex diseases. ... More


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