Quantitative detection of low-abundance somatic structural variants in normal cells by high-throughput sequencing.
The detection and quantification of low-abundance somatic DNA mutations by high-throughput sequencing is challenging because of the difficulty of distinguishing errors from true mutations. There are several approaches available for analyzing somatic point mutations and small insertions or deletions, but an accurate genome-wide assessment of somatic structural variants (somSVs) in bulk DNA is still not possible. Here we present Structural Variant Search (SVS), a method to accurately detect rare somSVs by low-coverage sequencing. We demonstrate direct quantitative assessment of elevated somSV frequencies induced by known clastogenic compounds in human primary cells.
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Wilber
W
Quispe-Tintaya
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.|Department of Genetics, Cytology, and Bioengineering, Voronezh State University, Voronezh, Russia.
Tatyana
0000-0002-8593-8959
T
Gorbacheva
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Moonsook
M
Lee
Department of Applied and System Software, Voronezh State University, Voronezh, Russia.
Sergei
S
Makhortov
Department of Genetics, Cytology, and Bioengineering, Voronezh State University, Voronezh, Russia.
Vasily N
0000-0003-1294-8686
VN
Popov
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Jan
J
Vijg
Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Alexander Y
AY
Maslov
D000465:Algorithms; D002478:Cells, Cultured; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism*; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008168:Lung / Q000166:cytology / Q000378:metabolism*; D009154:Mutation / Q000235:genetics*