Ontology highlight
ABSTRACT:
SUBMITTER: Fernandez-Jimenez N
PROVIDER: S-EPMC3236783 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Fernandez-Jimenez Nora N Castellanos-Rubio Ainara A Plaza-Izurieta Leticia L Gutierrez Galder G Irastorza Iñaki I Castaño Luis L Vitoria Juan Carlos JC Bilbao Jose Ramon JR
PloS one 20111213 12
The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the performance of the two major techniques, quantitative PCR (qPCR) and paralog ratio test (PRT), and investigate the influence of input DNA amount and template integrity on the reliability of both methods. Analysis of three genes (PRELID1, SYNPO and DEFB4) in a large sample set show ...[more]