Studying copy number variations using a nanofluidic platform
نویسندگان
چکیده
منابع مشابه
Studying copy number variations using a nanofluidic platform
Copy number variations (CNVs) in the human genome are conventionally detected using high-throughput scanning technologies, such as comparative genomic hybridization and high-density single nucleotide polymorphism (SNP) microarrays, or relatively low-throughput techniques, such as quantitative polymerase chain reaction (PCR). All these approaches are limited in resolution and can at best disting...
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Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...
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Copy Number Variations (CNVs) of regions of the human genome are important in disease association studies. It was recently shown how one can perform statistical analysis of CNV in a DNA sample utilizing a nanofluidic biochip, known as the digital array. This chip utilizes integrated channels and valves that partition mixtures of sample and reagents into 765 nanovolume reaction chambers. However...
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The availability of high-density single nucleotide polymorphism (SNP) microarrays in recent years has proven to be a great step forward in the context of global analysis of genomic abnormalities in disease. SNP arrays offer great robustness, high resolution and the possibility to detect a variety of different genomic copy number variations such as submicroscopic deletions, amplifications, loss ...
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UNLABELLED CNVDetector is a program for locating copy number variations (CNVs) in a single genome. CNVDetector has several merits: (i) it can deal with the array comparative genomic hybridization data even if the noise is not normally distributed; (ii) it has a linear time kernel; (iii) its parameters can be easily selected; (iv) it evaluates the statistical significance for each CNV calling. ...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2008
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gkn518