bioRxivBioinformaticsPreprint
QuicK-mer: A rapid paralog sensitive CNV detection pipeline
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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