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Fig 1.

(A) and (E) are OCR profiles for patient cell lines that have a genetic mutation in either BOLA3 (A) or PET100 (E), compared to control cell lines in two plates. (B) and (F) are posterior distributions for OCR per 1000 cells in BOLA3 (B) and PET100 (F) mutated patient cell lines during initial phase (Int1), oligomycin phase (Int2), FCCP phase (Int3) and antimycin/rotenone phase (Int4). (C) and (G) are posterior distributions for respiration metrics in BOLA3 (C) and PET100 (G) mutated patient cell lines and control cell lines. (D) and (H) are posterior distributions of log2 fold change in the respiration metrics between patient and control cell line.

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Fig 1 Expand

Fig 2.

Technical variations in Seahorse XF OCR data of experiments based on the patient cell line with mutation in NSUN3 gene and the control cell line.

Int1, Int2, Int3 and Int4 represent initial, oligomycin, FCCP and antimycin/rotenone phase. All the variations were on log scale. The dots are the posterior mean and the line segment represent the 95% credible interval.

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Fig 2 Expand

Fig 3.

Maximal respiration change patient vs. control on multiple plates.

(A) average log2 fold change (y-axis) of maximal respiration of all cell lines repeated across plates (x-axis) and their respective controls, sorted by the False Discovery Rate (FDR). Red and blue dots represent positive and negative controls, respectively. (B) similar to (A), but depicting FDR. Red dashed line represents FDR = 0.05.

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Fig 3 Expand

Fig 4.

(A) Raw OCR values for the cell line with genetic mutation in SFXN4 gene (patient cell line 61818) in three repeated plates. (B) Posterior distributions of maximal respiration of the cell line with genetic mutation in SFXN4 gene (patient cell line 61818) and the control cell line in the same plate. (C) Posterior distributions of maximal respiration of the cell line after combing all three repeated experiments.

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Fig 4 Expand

Fig 5.

(A) Posterior probability of decreasing maximal respiration in patient cell line with mutation in PET100 gene compared to the control cell line in the scenario with 1 or 2 plates. (B) Posterior probability of decreasing maximal respiration in patient cell line with mutation in NUSN3 gene compared to the control cell line in the scenario with 1, 2, 3, 4 or 5 plates.

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Fig 5 Expand