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. 2022 Jan 12;11:e73577. doi: 10.7554/eLife.73577

Figure 3. Candidate de novo mutations (DNMs) from the Mutationathon.

(a) The pedigree of three generations of rhesus macaques was sequenced and shared with five groups of researchers. Sequencing coverage is indicated for each individual. (b) Upset plot of the 43 candidate DNMs found in Heineken by each research group (LB: Lucie Bergeron; SB: Søren Besenbacher; CV: Cyril Versoza; TT: Tychele Turner; RW: Richard Wang) detected a total of 43 candidate DNMs in Heineken. The first six vertical bars are the candidates shared by at least four different groups. The PCR amplification and Sanger sequencing validation showed that 33 candidates were true-positive DNMs, 6 were false-positive calls (red bars), and 4 did not successfully amplify (gray bars). See Materials and methods for details on the experiment and Figure 3—source data 2 for the results of the PCR experiment.

Figure 3—source data 1. PCR validation of the candidate DNMs found by the various pipelines during the Mutationathon.
TP means validated as true positive DNM and FP appeared as false positive. The genotypes of all individuals as shown by the PCR validation are presented.
Figure 3—source data 2. Sanger sequencing chromatograms of the 39 DNM candidate sites that were successfully amplified for the four individuals, i.e. father (Noot), mother (M), offspring (Heineken), and second-generation offspring (Hoegaarde).
For each alignment, the candidate germline mutation position is located under the black square. The last six chromatograms (surrounded by red boxes) are the candidates that were detected as false-positive candidates.

Figure 3.

Figure 3—figure supplement 1. Mutation spectrum of the trio of rhesus macaques.

Figure 3—figure supplement 1.

’All TPs’ correspond to all true-positive de novo mutations (DNMs) validated by the PCR experiment. The different colors correspond to the true-positive DNMs found by each pipeline (LB: Lucie Bergeron; SB: Søren Besenbacher; CV: Cyril Versoza; TT: Tychele Turner; RW: Richard Wang).