Genomic structural variants: methods and protocols
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
New York
Humana Press
2012
|
| Schriftenreihe: | Methods in molecular biology
838 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Includes bibliographical references and index |
| Beschreibung: | XI, 386 S. Ill., graph. Darst. 27 cm |
Internformat
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| 264 | 1 | |a New York |b Humana Press |c 2012 | |
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| 490 | 0 | |a Springer protocols | |
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| 650 | 4 | |a Genetic Techniques / Laboratory Manuals | |
| 650 | 4 | |a Genetic disorders | |
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Datensatz im Suchindex
| _version_ | 1804148984002904064 |
|---|---|
| adam_text | Titel: Genomic structural variants
Autor: Feuk, Lars
Jahr: 2012
Contents
Preface.......................................................... v
Contributors...................................................... ix
1 What Have Studies of Genomic Disorders Taught
Us About Our Genome?......................................... 1
Alexandra D. Simmons, Claudia M.B. Carvalho,
and James R. Lupski
2 Microdeletion and Microduplication Syndromes....................... 29
Lisenka E.L.M. Vissers and Pawel Stankiewicz
3 Structural Genomic Variation in Intellectual Disability................... 77
Rolph Pfundt and Joris A. Veltman
4 Copy Number Variation and Psychiatric Disease Risk................... 97
Rebecca J. Levy, Bin Xu, Joseph A. Gogos,
and Maria Karayiorgou
5 Detection and Characterization of Copy Number Variation
in Autism Spectrum Disorder..................................... 115
Christian R. Marshall and Stephen W. Scherer
6 Structural Variation in Subtelomeres................................ 137
M. Katharine Rudd
7 Array-Based Approaches in Prenatal Diagnosis........................ 151
Paul D. Brady, Koenraad Devriendt, Jan Deprest,
and Joris R. Vermeesch
8 Structural Variation and Its Effect on Expression....................... 173
Louise Harewood, Evelyne Chaignat, and Alexandre Reymond
9 The Challenges of Studying Complex and Dynamic Regions
of the Human Genome.......................................... 187
Edward J. Hollox
10 Population Genetic Nature of Copy Number Variation.................. 209
Per Sjödin and Mattias Jakobsson
11 Detection and Interpretation of Genomic Structural
Variation in Mammals........................................... 225
Ira M. Hall and Aaron R. Quintan
12 Structural Genetic Variation in the Context of Somatic Mosaicism.......... 249
Jan P. Dumanski andArkadiusz Piotrowski
13 Online Resources for Genomic Structural Variation..................... 273
Tarn P. Sneddon and Deanna M. Church
14 Algorithm Implementation for CNV Discovery Using
Asymetrix and Illumina SNP Array Data............................. 291
Laura Winchester and Jiannis Ragoussis
vii
viii Contents
15 Targeted Screening and Validation of Copy Number Variations............ 311
Shana Ceulemans, Karlijn van der Ven, and Jürgen Del-Favero
16 High-Resolution Copy Number Profiling by Array CGH Using
DNA Isolated from Formalin-Fixed, Paraffin-Embedded Tissues........... 329
Hendrik F. van Essen and Bauke Tlstra
17 Characterizing and Interpreting Genetic Variation from Personal
Genome Sequencing............................................ 343
Anna C.V.Johansson and Lars Feuk
18 Massively Parallel Sequencing Approaches for Characterization
of Structural Variation........................................... 369
Daniel C. Koboldt, David E. Larson, Ken Chen, Li Ding,
and Richard K. Wilson
Index........................................................... 385
|
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| id | DE-604.BV039993863 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T00:15:48Z |
| institution | BVB |
| language | English |
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| physical | XI, 386 S. Ill., graph. Darst. 27 cm |
| publishDate | 2012 |
| publishDateSearch | 2012 |
| publishDateSort | 2012 |
| publisher | Humana Press |
| record_format | marc |
| series | Methods in molecular biology |
| series2 | Methods in molecular biology Springer protocols |
| spelling | Genomic structural variants methods and protocols ed. by Lars Feuk New York Humana Press 2012 XI, 386 S. Ill., graph. Darst. 27 cm txt rdacontent n rdamedia nc rdacarrier Methods in molecular biology 838 Springer protocols Includes bibliographical references and index Genomic Structural Variation / Laboratory Manuals Genetic Techniques / Laboratory Manuals Genetic disorders Feuk, Lars Sonstige oth Methods in molecular biology 838 (DE-604)BV035362695 838 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024850940&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Genomic structural variants methods and protocols Methods in molecular biology Genomic Structural Variation / Laboratory Manuals Genetic Techniques / Laboratory Manuals Genetic disorders |
| title | Genomic structural variants methods and protocols |
| title_auth | Genomic structural variants methods and protocols |
| title_exact_search | Genomic structural variants methods and protocols |
| title_full | Genomic structural variants methods and protocols ed. by Lars Feuk |
| title_fullStr | Genomic structural variants methods and protocols ed. by Lars Feuk |
| title_full_unstemmed | Genomic structural variants methods and protocols ed. by Lars Feuk |
| title_short | Genomic structural variants |
| title_sort | genomic structural variants methods and protocols |
| title_sub | methods and protocols |
| topic | Genomic Structural Variation / Laboratory Manuals Genetic Techniques / Laboratory Manuals Genetic disorders |
| topic_facet | Genomic Structural Variation / Laboratory Manuals Genetic Techniques / Laboratory Manuals Genetic disorders |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024850940&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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