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 …
(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 …
… 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
… We have systematically compared copy number variant (CNV) detection on eleven … across
array platforms and laboratory sites, breakpoint accuracy and analysis tool variability. Different …
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
… 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 …
and other mammalian genomes. It includes genomic deletion, duplication, and complex …
Copy number variation in human health, disease, and evolution
… 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 …
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
… 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 …
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
… 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-…
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
… 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 …
… 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
… 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…
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 …
in disease. Among various structural variations, copy number variations (CNVs) are shown to …
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