Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA

Two common sources of DNA for whole exome sequencing (WES) are whole blood (WB) and immortalized lymphoblastoid cell line (LCL). However, it is possible that LCLs have a substantially higher rate of mutation than WB, causing concern for their use in sequencing studies. We compared results from paire...

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Veröffentlicht in:Genomics (San Diego, Calif.) Calif.), 2013-10, Vol.102 (4), p.270-277
Hauptverfasser: Schafer, Chad M., Campbell, Nicholas G., Cai, Guiqing, Yu, Fei, Makarov, Vladimir, Yoon, Seungtai, Daly, Mark J., Gibbs, Richard A., Schellenberg, Gerard D., Devlin, Bernie, Sutcliffe, James S., Buxbaum, Joseph D., Roeder, Kathryn
Format: Artikel
Sprache:eng
Schlagworte:
Alleles
blood
Blood Cells - physiology
Cell Line
Computational Biology
DNA
Exome
Genotype
Graphical diagnostics
High-Throughput Nucleotide Sequencing
Humans
Lymphoblastoid cell line
Mosaicism
Mutation
prediction
Reproducibility of Results
sequence analysis
Sequence Analysis, DNA
Sequence variant call
Somatic mutation
Strand bias
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Zusammenfassung:Two common sources of DNA for whole exome sequencing (WES) are whole blood (WB) and immortalized lymphoblastoid cell line (LCL). However, it is possible that LCLs have a substantially higher rate of mutation than WB, causing concern for their use in sequencing studies. We compared results from paired WB and LCL DNA samples for 16 subjects, using LCLs of low passage number (
ISSN:0888-7543
1089-8646
DOI:10.1016/j.ygeno.2013.05.005