Performance assessment of copy number microarray platforms using a spike-in experiment.

ABSTRACT:

Motivation

Changes in the copy number of chromosomal DNA segments [copy number variants (CNVs)] have been implicated in human variation, heritable diseases and cancers. Microarray-based platforms are the current established technology of choice for studies reporting these discoveries and constitute the benchmark against which emergent sequence-based approaches will be evaluated. Research that depends on CNV analysis is rapidly increasing, and systematic platform assessments that distinguish strengths and weaknesses are needed to guide informed choice.

Results

We evaluated the sensitivity and specificity of six platforms, provided by four leading vendors, using a spike-in experiment. NimbleGen and Agilent platforms outperformed Illumina and Affymetrix in accuracy and precisio

SUBMITTER: Halper-Stromberg E 

PROVIDER: S-EPMC3072561 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature