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Statistics and Informatics in Molecular Cancer Research

Carsten Wiuf and Claus L. Andersen (eds)

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199532872
eISBN:
9780191714467
Item type:
book
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199532872.001.0001
Subject:
Mathematics, Probability / Statistics, Biostatistics

This book discusses novel advances in informatics and statistics in molecular cancer research. Through eight chapters it discusses specific topics in cancer research, talks about how the topics give ... More


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


Methods for derivation of LOH and allelic copy numbers using SNP arrays

Carsten Wiuf, Philippe Lamy, and Claus L. Andersen

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/9780199532872.003.0003
Subject:
Mathematics, Probability / Statistics, Biostatistics

This chapter discusses statistical methods to derive loss-of-heterozygosity (LOH) and allele specific copy numbers in cancer cells. SNP arrays enable simultaneous information about thousands of DNA ... 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


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


Genetic Architecture of Schizophrenia: The Contribution of Copy Number Variation

Maria Karayiorgou, Rebecca J. Levy, and Bin Xu

in The Origins of Schizophrenia

Published in print:
2011
Published Online:
November 2015
ISBN:
9780231151245
eISBN:
9780231521925
Item type:
chapter
Publisher:
Columbia University Press
DOI:
10.7312/columbia/9780231151245.003.0008
Subject:
Psychology, Health Psychology

This chapter focuses on schizophrenia-associated copy number variants (CNV). CNVs are alterations of the DNA of a genome that result in the cell having an abnormal or, for certain genes, a normal ... More


Developments in DNA Profiling Techniques and Technologies

Cheryl Allsop

in Cold Case Reviews: DNA, Detective Work and Unsolved Major Crimes

Published in print:
2018
Published Online:
March 2018
ISBN:
9780198747451
eISBN:
9780191810459
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780198747451.003.0002
Subject:
Law, Criminal Law and Criminology

This chapter provides a brief history of developments in genetic profiling, noting the advances in profiling techniques from the initial discovery by Sir Alec Jeffreys of what was then termed DNA ... More


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