Coverart for item
The Resource Genomic structural variants : methods and protocols, edited by Lars Feuk, (electronic resource)

Genomic structural variants : methods and protocols, edited by Lars Feuk, (electronic resource)

Label
Genomic structural variants : methods and protocols
Title
Genomic structural variants
Title remainder
methods and protocols
Statement of responsibility
edited by Lars Feuk
Contributor
Subject
Genre
Language
eng
Member of
Cataloging source
BTCTA
Dewey number
616/.042
LC call number
RB155.5
LC item number
.G467 2012
http://library.link/vocab/relatedWorkOrContributorName
Feuk, Lars
Series statement
  • Methods in molecular biology
  • Springer protocols
Series volume
838
http://library.link/vocab/subjectName
  • Genetic disorders
  • Genomic Structural Variation
  • Genetic Techniques
Label
Genomic structural variants : methods and protocols, edited by Lars Feuk, (electronic resource)
Instantiates
Publication
Bibliography note
Includes bibliographical references and index
Contents
  • Detection and characterization of copy number variation in autism spectrum disorder
  • Christian R. Marshall and Stephen W. Scherer -- Structural variation in subtelomeres
  • M. Katharine Rudd
  • Array-based approaches in prenatal diagnosis
  • Paul D. Brady ... [et al.]
  • Structural variation and its effect on expression
  • Louise Harewood, Evelyne Chaignat, and Alexandre Reymond
  • Challenges of studying complex and dynamic regions of the human genome
  • Edward J. Hollox
  • Population genetic nature of copy number variation
  • What have studies of genomic disorders taught us about our genome?
  • Per Sjödin and Mattias Jakobsson
  • Detection and interpretation of genomic structural variation in mammals
  • Ira M. Hall and Aaron R. Quinlan
  • Structural genetic variation in the context of somatic mosaicism
  • Jan P. Dumanski and Arkadiusz Piotrowski
  • Online resources for genomic structural variation
  • Tam P. Sneddon and Deanna M. Church
  • Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data
  • Laura Winchester and Jiannis Ragoussis
  • Targeted screening and validation of copy number variations
  • Alexandra D. Simmons, Claudia M.B. Carvalho,and James R. Lupski
  • Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero
  • High-resolution copy number profiling by array CGH using DNA isolated from formalin-fixed, paraffin-embedded tissues
  • Hendrik F. van Essen and Bauke Ylstra
  • Characterizing and interpreting genetic variation from personal genome sequencing
  • Anna C.V. Johansson and Lars Feuk
  • Massively parallel sequencing approaches for characterization of structural variation
  • Daniel C. Koboldt ... [et al.]
  • Microdeletion and microduplication syndromes
  • Lisenka E.L.M. Vissers and Paweł Stankiewicz
  • Structural genomic variation in intellectual disability
  • Rolph Pfundt and Joris A. Veltman
  • Copy number variation and psychiatric disease risk
  • Rebecca J. Levy ... [et al.]
Control code
OCM1bookssj0000609818
Dimensions
27 cm.
Dimensions
unknown
Extent
xi, 386 pages
Isbn
9781617795060
Isbn Type
(alk. paper)
Lccn
2011944357
Other physical details
illustrations (some color)
Specific material designation
remote
System control number
(WaSeSS)ssj0000609818
Label
Genomic structural variants : methods and protocols, edited by Lars Feuk, (electronic resource)
Publication
Bibliography note
Includes bibliographical references and index
Contents
  • Detection and characterization of copy number variation in autism spectrum disorder
  • Christian R. Marshall and Stephen W. Scherer -- Structural variation in subtelomeres
  • M. Katharine Rudd
  • Array-based approaches in prenatal diagnosis
  • Paul D. Brady ... [et al.]
  • Structural variation and its effect on expression
  • Louise Harewood, Evelyne Chaignat, and Alexandre Reymond
  • Challenges of studying complex and dynamic regions of the human genome
  • Edward J. Hollox
  • Population genetic nature of copy number variation
  • What have studies of genomic disorders taught us about our genome?
  • Per Sjödin and Mattias Jakobsson
  • Detection and interpretation of genomic structural variation in mammals
  • Ira M. Hall and Aaron R. Quinlan
  • Structural genetic variation in the context of somatic mosaicism
  • Jan P. Dumanski and Arkadiusz Piotrowski
  • Online resources for genomic structural variation
  • Tam P. Sneddon and Deanna M. Church
  • Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data
  • Laura Winchester and Jiannis Ragoussis
  • Targeted screening and validation of copy number variations
  • Alexandra D. Simmons, Claudia M.B. Carvalho,and James R. Lupski
  • Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero
  • High-resolution copy number profiling by array CGH using DNA isolated from formalin-fixed, paraffin-embedded tissues
  • Hendrik F. van Essen and Bauke Ylstra
  • Characterizing and interpreting genetic variation from personal genome sequencing
  • Anna C.V. Johansson and Lars Feuk
  • Massively parallel sequencing approaches for characterization of structural variation
  • Daniel C. Koboldt ... [et al.]
  • Microdeletion and microduplication syndromes
  • Lisenka E.L.M. Vissers and Paweł Stankiewicz
  • Structural genomic variation in intellectual disability
  • Rolph Pfundt and Joris A. Veltman
  • Copy number variation and psychiatric disease risk
  • Rebecca J. Levy ... [et al.]
Control code
OCM1bookssj0000609818
Dimensions
27 cm.
Dimensions
unknown
Extent
xi, 386 pages
Isbn
9781617795060
Isbn Type
(alk. paper)
Lccn
2011944357
Other physical details
illustrations (some color)
Specific material designation
remote
System control number
(WaSeSS)ssj0000609818

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