Single-cell CNV detection in human neuronal nuclei

Margaret B. Wierman; Ian E. Burbulis; William D. Chronister; Stefan Bekiranov; Michael J. McConnell

doi:10.1007/978-1-4939-7280-7_6

Single-cell CNV detection in human neuronal nuclei

Margaret B. Wierman
, Ian E. Burbulis
, William D. Chronister
, Stefan Bekiranov
, Michael J. McConnell^*

^*Corresponding author for this work

University of Virginia

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

3 Scopus citations

Abstract

Genomic mosaicism is prevalent throughout human somatic tissues and is much more common than previously thought. Here, we describe step-by-step methods to isolate neuronal nuclei from human brain and identify megabase-scale copy number variants (CNVs) in single nuclei. The approach detailed herein includes use of CellRaft technology for single-nucleus isolation, the PicoPLEX approach to whole-genome amplification and library preparation, and a pooled library purification protocol, termed Gel2Gel, which has been developed in our laboratory. These methods are focused toward neuroscience research, but are adaptable to many biomedical fields.

Original language	English
Title of host publication	Neuromethods
Publisher	Humana Press Inc.
Pages	109-131
Number of pages	23
DOIs	https://doi.org/10.1007/978-1-4939-7280-7_6
State	Published - 2017

Publication series

Name	Neuromethods
Volume	131
ISSN (Print)	0893-2336
ISSN (Electronic)	1940-6045

Bibliographical note

Publisher Copyright:
© 2017, Springer Science+Business Media LLC.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

ASJC Scopus subject areas

General Neuroscience
General Biochemistry, Genetics and Molecular Biology
Pharmacology, Toxicology and Pharmaceutics (all)
Psychiatry and Mental health

Access to Document

10.1007/978-1-4939-7280-7_6

Cite this

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title = "Single-cell CNV detection in human neuronal nuclei",

abstract = "Genomic mosaicism is prevalent throughout human somatic tissues and is much more common than previously thought. Here, we describe step-by-step methods to isolate neuronal nuclei from human brain and identify megabase-scale copy number variants (CNVs) in single nuclei. The approach detailed herein includes use of CellRaft technology for single-nucleus isolation, the PicoPLEX approach to whole-genome amplification and library preparation, and a pooled library purification protocol, termed Gel2Gel, which has been developed in our laboratory. These methods are focused toward neuroscience research, but are adaptable to many biomedical fields.",

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author = "Wierman, \{Margaret B.\} and Burbulis, \{Ian E.\} and Chronister, \{William D.\} and Stefan Bekiranov and McConnell, \{Michael J.\}",

note = "Publisher Copyright: {\textcopyright} 2017, Springer Science+Business Media LLC.",

year = "2017",

doi = "10.1007/978-1-4939-7280-7\_6",

language = "English",

series = "Neuromethods",

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AU - Wierman, Margaret B.

AU - Burbulis, Ian E.

AU - Chronister, William D.

AU - Bekiranov, Stefan

AU - McConnell, Michael J.

PY - 2017

Y1 - 2017

N2 - Genomic mosaicism is prevalent throughout human somatic tissues and is much more common than previously thought. Here, we describe step-by-step methods to isolate neuronal nuclei from human brain and identify megabase-scale copy number variants (CNVs) in single nuclei. The approach detailed herein includes use of CellRaft technology for single-nucleus isolation, the PicoPLEX approach to whole-genome amplification and library preparation, and a pooled library purification protocol, termed Gel2Gel, which has been developed in our laboratory. These methods are focused toward neuroscience research, but are adaptable to many biomedical fields.

AB - Genomic mosaicism is prevalent throughout human somatic tissues and is much more common than previously thought. Here, we describe step-by-step methods to isolate neuronal nuclei from human brain and identify megabase-scale copy number variants (CNVs) in single nuclei. The approach detailed herein includes use of CellRaft technology for single-nucleus isolation, the PicoPLEX approach to whole-genome amplification and library preparation, and a pooled library purification protocol, termed Gel2Gel, which has been developed in our laboratory. These methods are focused toward neuroscience research, but are adaptable to many biomedical fields.

KW - And somatic mosaicism

KW - Copy number variation

KW - Neurons

KW - Single-cell genome sequencing

KW - Whole-genome amplification

UR - https://www.scopus.com/pages/publications/85029354537

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DO - 10.1007/978-1-4939-7280-7_6

M3 - Chapter

AN - SCOPUS:85029354537

T3 - Neuromethods

SP - 109

EP - 131

BT - Neuromethods

PB - Humana Press Inc.

ER -

Single-cell CNV detection in human neuronal nuclei

Abstract

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Bibliographical note

UN SDGs

ASJC Scopus subject areas

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