Ontology highlight
ABSTRACT:
SUBMITTER: Schafer CM
PROVIDER: S-EPMC3812417 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Schafer Chad M CM Campbell Nicholas G NG Cai Guiqing G Yu Fei F Makarov Vladimir V Yoon Seungtai S Daly Mark J MJ Gibbs Richard A RA Schellenberg Gerard D GD Devlin Bernie B Sutcliffe James S JS Buxbaum Joseph D JD Roeder Kathryn K
Genomics 20130603 4
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 (<5). Using a standard analysis pipeline we detected a large number of discordant genotype calls (approximately 50 per subjec ...[more]