Copy Number Variation Analysis on Cell-Free Serum DNA
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Copy Number Variation Analysis on Cell-Free Serum DNA. / Schwarzenbach, Heidi.
Cell-free DNA as Diagnostic Markers: Methods and Protocols. ed. / Valentina Casadio; Samanta Salvi. Vol. 1909 1. ed. New York : Humana Press, 2019. p. 85-93 (Methods Mol Biol).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
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TY - CHAP
T1 - Copy Number Variation Analysis on Cell-Free Serum DNA
AU - Schwarzenbach, Heidi
PY - 2019
Y1 - 2019
N2 - Genome diversity comprises single nucleotide polymorphisms, deletions, insertions, and duplications. These gains and losses of DNA segments leading to rearrangements of sequences are termed copy number variations (CNVs). CNVs may disrupt genes and/or alter gene dosage and, thereby, have an impact on both protein-coding and noncoding genes. Accordingly, they affect the activity of various signaling pathways and influence the cell phenotype. They are associated with risks for several severe diseases, in particular cancer. In the current chapter, I introduce a rapid profiling method to identify CNVs in circulating, cell-free DNA by multiplex ligation-dependent probe amplification (MLPA). MLPA represents an efficient method for the detection of CNVs among numerous genes on various chromosomal regions in serum.
AB - Genome diversity comprises single nucleotide polymorphisms, deletions, insertions, and duplications. These gains and losses of DNA segments leading to rearrangements of sequences are termed copy number variations (CNVs). CNVs may disrupt genes and/or alter gene dosage and, thereby, have an impact on both protein-coding and noncoding genes. Accordingly, they affect the activity of various signaling pathways and influence the cell phenotype. They are associated with risks for several severe diseases, in particular cancer. In the current chapter, I introduce a rapid profiling method to identify CNVs in circulating, cell-free DNA by multiplex ligation-dependent probe amplification (MLPA). MLPA represents an efficient method for the detection of CNVs among numerous genes on various chromosomal regions in serum.
KW - Journal Article
U2 - 10.1007/978-1-4939-8973-7_6
DO - 10.1007/978-1-4939-8973-7_6
M3 - SCORING: Contribution to collected editions/anthologies
C2 - 30580424
SN - 978-1493989720
VL - 1909
T3 - Methods Mol Biol
SP - 85
EP - 93
BT - Cell-free DNA as Diagnostic Markers
A2 - Casadio, Valentina
A2 - Salvi, Samanta
PB - Humana Press
CY - New York
ER -