Corrigendum: Detecting differential copy number variation between groups of samples
نویسندگان
چکیده
منابع مشابه
Detecting differential copy number variation between groups of samples.
We present a method to detect copy number variants (CNVs) that are differentially present between two groups of sequenced samples. We use a finite-state transducer where the emitted read depth is conditioned on the mappability and GC-content of all reads that occur at a given base position. In this model, the read depth within a region is a mixture of binomials, which in simulations matches the...
متن کاملCurrent analysis platforms and methods for detecting copy number variation.
Copy number variation (CNV), generated through duplication or deletion events that affect one or more loci, is widespread in the human genomes and is often associated with functional consequences that may include changes in gene expression levels or fusion of genes. Genome-wide association studies indicate that some disease phenotypes and physiological pathways might be impacted by CNV in a sma...
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Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
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System noise was analyzed in 77 Affymetrix 6.0 samples from a previous clinical study of copy number variation (CNV). Twenty-three samples were classified as eligible for CNV detection, 29 samples as ineligible and 25 were classified as being of intermediate quality. New software ("noise-free-cnv") was developed to visualize the data and reduce system noise. Fresh DNA preparations were more lik...
متن کاملHigh-resolution assessment of copy number variation.
PCR revolutionized genetic analysis by enabling selective amplification of targeted sequences that, as a consequence of massive enrichment, could undergo genetic analysis by a variety of methodologies. The subsequent addition of a double-stranded DNA intercalating dye to the master mix was a key adaptation to PCR that allowed monitoring of amplification in real time, thus enabling quantificatio...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2018
ISSN: 1088-9051,1549-5469
DOI: 10.1101/gr.237370.118