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- W2097360336 abstract "We present CANOES, an algorithm for the detection of rare copy number variants from exome sequencing data. CANOES models read counts using a negative binomial distribution and estimates variance of the read counts using a regression-based approach based on selected reference samples in a given dataset. We test CANOES on a family-based exome sequencing dataset, and show that its sensitivity and specificity is comparable to that of XHMM. Moreover, the method is complementary to Gaussian approximation-based methods (e.g. XHMM or CoNIFER). When CANOES is used in combination with these methods, it will be possible to produce high accuracy calls, as demonstrated by a much reduced and more realistic de novo rate in results from trio data." @default.
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- W2097360336 date "2014-04-25" @default.
- W2097360336 modified "2023-10-12" @default.
- W2097360336 title "CANOES: detecting rare copy number variants from whole exome sequencing data" @default.
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- W2097360336 doi "https://doi.org/10.1093/nar/gku345" @default.
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