• CNV IFTV: An Isolation Forest and Total Variation-Based Detection of CNVs from Short-Read Sequencing Data

    28 days ago - By IEEE/ACM

    Accurate detection of copy number variations from short-read sequencing data is challenging due to the uneven distribution of reads and the unbalanced amplitudes of gains and losses. The direct use of read depths to measure CNVs tends to limit performance. Thus, robust computational approaches equipped with appropriate statistics are required to detect CNV regions and boundaries. This study proposes a new method called CNV IFTV to address this need. CNV IFTV assigns an anomaly score to each genome bin through a collection of isolation trees. The trees are trained based on isolation forest...
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