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Fig. 2 | BMC Genomics

Fig. 2

From: MAC: identifying and correcting annotation for multi-nucleotide variations

Fig. 2

Depiction of MAC workflow (left panel) and a MAC test run (right panel). Left: (A1) A list of SNVs identified by any variant caller; (A2) Reads extracted from the BAM file for all SNVs to identify Block of Mutations; (A3) Identify Block of Mutations within Codon within each subgraph using an annotation tool. Right: MAC test run using 3024 input SNVs from a breast cancer data set identified 56 BMs and 4 BMCs containing 8 SNVs. After re-annotation, 7 of 8 SNVs were classified as MNVs with different amino acid changes than the original SNV-based annotation

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