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...
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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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ژورنال
عنوان ژورنال: Genome Research
سال: 2017
ISSN: 1088-9051,1549-5469
DOI: 10.1101/gr.206938.116