Genomic structural variants
Subtitle: methods and protocols
By: edited by Lars Feuk
Series: Methods in molecular biology -- 838; Springer protocols; Methods in molecular biology (Clifton, N.J.) -- v. 838.; Springer protocols
Publisher: Humana Press
Published: 2012
Place of publication: New York
Language: eng
Number of pages: 386
ISBN-13: 9781617795060; 9781617795077
Subjects: Genomic Structural Variation; Genetic Techniques; Genetic disorders; Laboratory Manuals
Notes: Includes bibliographical references and index.
Table of contents: title: What have studies of genomic disorders taught us about our genome?  -- Alexandra D. Simmons, Claudia M.B. Carvalho,and James R. Lupski; title: Microdeletion and microduplication syndromes  -- Lisenka E.L.M. Vissers and Paweł Stankiewicz; title: Structural genomic variation in intellectual disability  -- Rolph Pfundt and Joris A. Veltman; title: Copy number variation and psychiatric disease risk  -- Rebecca J. Levy ... [et al.]; title: 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; title: Array-based approaches in prenatal diagnosis  -- Paul D. Brady ... [et al.]; title: Structural variation and its effect on expression  -- Louise Harewood, Evelyne Chaignat, and Alexandre Reymond; title: Challenges of studying complex and dynamic regions of the human genome  -- Edward J. Hollox; title: Population genetic nature of copy number variation  -- Per Sjödin and Mattias Jakobsson; title: Detection and interpretation of genomic structural variation in mammals  -- Ira M. Hall and Aaron R. Quinlan; title: Structural genetic variation in the context of somatic mosaicism  -- Jan P. Dumanski and Arkadiusz Piotrowski; title: Online resources for genomic structural variation  -- Tam P. Sneddon and Deanna M. Church; title: Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data  -- Laura Winchester and Jiannis Ragoussis; title: Targeted screening and validation of copy number variations  -- Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero; title: High-resolution copy number profiling by array CGH using DNA isolated from formalin-fixed, paraffin-embedded tissues  -- Hendrik F. van Essen and Bauke Ylstra; title: Characterizing and interpreting genetic variation from personal genome sequencing  -- Anna C.V. Johansson and Lars Feuk; title: Massively parallel sequencing approaches for characterization of structural variation -- Daniel C. Koboldt ... [et al.].