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Figure 6 | Genome Biology

Figure 6

From: Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis

Figure 6

Local pool patterns for error analysis. X-axes denote position in a local sequence. Position 16 is the variant site being analyzed, positions 1 to 15 are immediately upstream and positions 17 to 31 are downstream. Y-axes denote the weighted allele frequency of the most prominent non-reference allele at each position (mismatch rate). Individual pools are denoted by a unique line pattern, color, and number/letter. Light shading indicates the pool pattern that is most recognizable by SERVIC4E for each position. (a) Local weighted allele frequencies for each pool at position 14,551,524 ± 15 in chromosome 3 from the first cohort. The evaluated pattern of pools at the variant position involves pools 5, 6, 7, and 8, while the evaluated pattern at proximal positions involves pool 4. The dissimilarity between patterns results in retention of chr3:14551524 as a variant site. (b) Local weighted allele frequencies for each pool at position 14,552,916 ± 15 in chromosome 3 from the second cohort. The evaluated pattern of pools at the variant position involves pools 7, 13 (c), 20 (j), 22 (l), and 24 (n), and the evaluated pattern at proximal positions involves the same pools. The similarity between patterns results in elimination of chr3:14552916 as a variant site.

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