Improved molecular karyotyping in glioblastoma

Ian E. Burbulis; Margaret B. Wierman; Matt Wolpert; Mark Haakenson; Maria Beatriz Lopes; David Schiff; James Hicks; Justin Loe; Aakrosh Ratan; Michael J. McConnell

doi:10.1016/j.mrfmmm.2018.06.002

Improved molecular karyotyping in glioblastoma

Ian E. Burbulis, Margaret B. Wierman, Matt Wolpert, Mark Haakenson, Maria Beatriz Lopes, David Schiff, James Hicks, Justin Loe, Aakrosh Ratan, Michael J. McConnell^*

^*Autor correspondiente de este trabajo

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

4 Citas (Scopus)

Resumen

Uneven replication creates artifacts during whole genome amplification (WGA) that confound molecular karyotype assignment in single cells. Here, we present an improved WGA recipe that increased coverage and detection of copy number variants (CNVs) in single cells. We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism.

Idioma original	Inglés
Páginas (desde-hasta)	16-26
Número de páginas	11
Publicación	Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volumen	811
DOI	https://doi.org/10.1016/j.mrfmmm.2018.06.002
Estado	Publicada - 2018

Nota bibliográfica

Publisher Copyright:
© 2018 Elsevier B.V.

Áreas temáticas de ASJC Scopus

Biología molecular
Genética
Salud, toxicología y mutagénesis

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10.1016/j.mrfmmm.2018.06.002

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title = "Improved molecular karyotyping in glioblastoma",

abstract = "Uneven replication creates artifacts during whole genome amplification (WGA) that confound molecular karyotype assignment in single cells. Here, we present an improved WGA recipe that increased coverage and detection of copy number variants (CNVs) in single cells. We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism.",

keywords = "Copy number variation, Glioblastoma, Molecular karyotype, Single cell, Tumor evolution, Whole genome sequencing",

author = "Burbulis, {Ian E.} and Wierman, {Margaret B.} and Matt Wolpert and Mark Haakenson and Lopes, {Maria Beatriz} and David Schiff and James Hicks and Justin Loe and Aakrosh Ratan and McConnell, {Michael J.}",

note = "Publisher Copyright: {\textcopyright} 2018 Elsevier B.V.",

year = "2018",

month = sep,

doi = "10.1016/j.mrfmmm.2018.06.002",

language = "English",

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journal = "Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis",

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TY - JOUR

T1 - Improved molecular karyotyping in glioblastoma

AU - Burbulis, Ian E.

AU - Wierman, Margaret B.

AU - Wolpert, Matt

AU - Haakenson, Mark

AU - Lopes, Maria Beatriz

AU - Schiff, David

AU - Hicks, James

AU - Loe, Justin

AU - Ratan, Aakrosh

AU - McConnell, Michael J.

PY - 2018/9

Y1 - 2018/9

N2 - Uneven replication creates artifacts during whole genome amplification (WGA) that confound molecular karyotype assignment in single cells. Here, we present an improved WGA recipe that increased coverage and detection of copy number variants (CNVs) in single cells. We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism.

AB - Uneven replication creates artifacts during whole genome amplification (WGA) that confound molecular karyotype assignment in single cells. Here, we present an improved WGA recipe that increased coverage and detection of copy number variants (CNVs) in single cells. We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism.

KW - Copy number variation

KW - Glioblastoma

KW - Molecular karyotype

KW - Single cell

KW - Tumor evolution

KW - Whole genome sequencing

UR - http://www.scopus.com/inward/record.url?scp=85050387575&partnerID=8YFLogxK

U2 - 10.1016/j.mrfmmm.2018.06.002

DO - 10.1016/j.mrfmmm.2018.06.002

M3 - Article

C2 - 30055482

AN - SCOPUS:85050387575

SN - 0027-5107

VL - 811

SP - 16

EP - 26

JO - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

JF - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

ER -

Improved molecular karyotyping in glioblastoma

Resumen

Nota bibliográfica

Áreas temáticas de ASJC Scopus

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