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Fig. 2 | BMC Genomics

Fig. 2

From: MONTAGE: a new tool for high-throughput detection of mosaic copy number variation

Fig. 2

MONTAGE Algorithm Conceptual Flow Diagram. Code overview with key inputs and variables. First data is normalized to BAF and LRR values genome-wide for each sample. Then the number of deviating BAF values in a first pass sliding window are accounted to screen for potential mosaic events as an initial algorithmic step. The first quartile minus 1.5 interquartile range of the LRR paired with strong BAF deviation defines the calling threshold for mosaic deletion events. Fragmented windows meeting threshold are then merged together to form larger calls. The breakpoints are then refined based on the first and last specific base pair evidence of strongly deviating BAF within the merged window

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