首页|CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays
CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
NSTL
Elsevier
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-wide true and false negatives. CNV-ROC uses a higher resolution microarray to confirm calls from a lower resolution microarray and provides for a true measure of genome-wide performance metrics at the resolution offered by microarray testing. CNV-ROC also provides for a very precise comparison of CNV calls between two microarray platforms without the need to establish an arbitrary degree of overlap. Comparison of CNVs across microarrays is done on a per-probe basis and receiver operator characteristic (ROC) analysis is used to calibrate algorithmic metrics, such as log(2) ratio threshold, to enhance CNV calling performance. CNV-ROC addresses a critical and consistently overlooked aspect of analytical assessments of genome-wide techniques like CMAs which is the measurement and use of genome-wide true and false negative data for the calculation of performance metrics and comparison of CNV profiles between different microarray experiments. (C) 2015 Elsevier Inc. All rights reserved.
MicroarraySensitivitySpecificityPrecisionROC
Goodman, Corey W.、Major, Heather J.、Walls, William D.、Sheffield, Val C.、Casavant, Thomas L.、Darbro, Benjamin W.
展开 >
Univ Iowa, Dept Elect & Comp Engn, Iowa City, IA 52242 USA
Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
Univ Iowa, PhD Program Genet, Iowa City, IA 52242 USA
NSTL
Elsevier
