Current analysis platforms and methods for detecting copy number variation

W Li, M Olivier - Physiological genomics, 2013 - journals.physiology.org
… Forms of mammalian genomic variation include … variation (SV) such as copy number variants
(CNVs). CNVs are imbalances that alter the diploid status of a locus so that copy numbers

Studying copy number variations using a nanofluidic platform

J Qin, RC Jones, R Ramakrishnan - Nucleic acids research, 2008 - academic.oup.com
copy number. We have developed a new technology to study copy numbers using a platform
… as a 15% difference in gene copy number (or between 6 and 7 copies of a target gene). We …

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

D Pinto, K Darvishi, X Shi, D Rajan, D Rigler… - Nature …, 2011 - nature.com
… We have systematically compared copy number variant (CNV) detection on eleven … across
array platforms and laboratory sites, breakpoint accuracy and analysis tool variability. Different …

[HTML][HTML] Evaluation of copy number variation detection for a SNP array platform

X Zhang, R Du, S Li, F Zhang, L Jin, H Wang - BMC bioinformatics, 2014 - Springer
Copy number variation (CNV) is a type of genetic variation that is widely found in human
and other mammalian genomes. It includes genomic deletion, duplication, and complex …

Copy number variation in human health, disease, and evolution

F Zhang, W Gu, ME Hurles… - Annual review of …, 2009 - annualreviews.org
… In subsequent years, many additional studies using a multitude of different high-resolution
genome analysis platforms have advanced our knowledge of CNVs, and a comprehensive …

[HTML][HTML] The pitfalls of platform comparison: DNA copy number array technologies assessed

C Curtis, AG Lynch, MJ Dunning, I Spiteri, JC Marioni… - BMC genomics, 2009 - Springer
… Small regions of gain/loss as exemplified by copy number variation between normal HapMap
individuals A total of 79 sites of copy number variation have been identified between the …

[HTML][HTML] Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans

RR Haraksingh, A Abyzov, AE Urban - BMC genomics, 2017 - Springer
… practice to efficiently detect copy number variants (CNVs) … will comprise essential tools for
genome analysis in the coming years. … , Agilent, and Illumina platforms by hybridizing the well-…

[HTML][HTML] Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

J de Ligt, PM Boone, R Pfundt, LELM Vissers… - Genomics data, 2014 - Elsevier
Copy number variation (CNV) is a common source of genetic variation that has been implicated
… from three independent high-resolution microarray platforms. Calls made by the different …

[HTML][HTML] Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

RR Haraksingh, A Abyzov, M Gerstein, AE Urban… - PloS one, 2011 - journals.plos.org
… Accurate and efficient genome-wide detection of copy number variants (… summary, there
are many CNVs both large and small that are detected by only a limited number of platforms

[HTML][HTML] iCopyDAV: Integrated platform for copy number variations—Detection, annotation and visualization

P Dharanipragada, S Vogeti, N Parekh - PLoS One, 2018 - journals.plos.org
… interest in identifying population-specific structural variants (SVs), and their possible role
in disease. Among various structural variations, copy number variations (CNVs) are shown to …