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QuicK-mer: A rapid paralog sensitive CNV detection pipeline

Feichen Shen, Jeffrey Kidd
doi: https://doi.org/10.1101/028225
Feichen Shen
1Department of Human Genetics and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA
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Jeffrey Kidd
1Department of Human Genetics and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA
2Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA
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  • For correspondence: jmkidd@umich.edu
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Abstract

QuicK-mer is a unified pipeline for estimating genome copy-number from high-throughput Illumina sequencing data. QuicK-mer utilizes the Jellyfish application to efficiently tabulate counts of predefined sets of k-mers. The program performs GC-normalization using defined control regions and reports paralog-specific estimates of copy-number suitable for downstream analysis. The package is freely available at https://github.com/KiddLab/QuicK-mer

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Posted October 03, 2015.
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QuicK-mer: A rapid paralog sensitive CNV detection pipeline
Feichen Shen, Jeffrey Kidd
bioRxiv 028225; doi: https://doi.org/10.1101/028225
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QuicK-mer: A rapid paralog sensitive CNV detection pipeline
Feichen Shen, Jeffrey Kidd
bioRxiv 028225; doi: https://doi.org/10.1101/028225

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