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A Novel Method for Detecting Contaminated Sample Based on Illumina Sequencing Data
2014
International Journal of Bioscience Biochemistry and Bioinformatics
Illumina sequencing platform is widely used in genetics research. Due to the complex andlong-term library construction and DNA sequencing, samples can be contaminated with different sources, which can lead to false-positive SNP calling. To identify the contaminated samples, we built a model of mappability score to quantitatively measurethe accessibility of different parts ofhuman genome. By characterizing the genomic region with high probability of uniqueness and counting the discordant reads
doi:10.7763/ijbbb.2014.v4.322
fatcat:yu4y7b6awfb6ni7zeoxitf73ou