CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.

ABSTRACT: Chromosomal microarrays (CMAs) are routinely used in both research and clinical laboratories; yet, little attention has been given to the estimation of genome-wide true and false negatives during the assessment of these assays and how such information could be used to calibrate various algorithmic metrics to improve performance. Low-throughput, locus-specific methods such as fluorescence in situ hybridization (FISH), quantitative PCR (qPCR), or multiplex ligation-dependent probe amplification (MLPA) preclude rigorous calibration of various metrics used by copy number variant (CNV) detection algorithms. To aid this task, we have established a comparative methodology, CNV-ROC, which is capable of performing a high throughput, low cost, analysis of CMAs that takes into consideration genome-wi

SUBMITTER: Goodman CW 

PROVIDER: S-EPMC4936396 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature