Fig. 5: Reduction of the rare SV pool with increasing control samples. | Nature Communications

Fig. 5: Reduction of the rare SV pool with increasing control samples.

From: Using the linear references from the pangenome to discover missing autism variants

Fig. 5: Reduction of the rare SV pool with increasing control samples.

a Cumulative discovery curves of SVs identified in different control cohorts of 108, 285 and 569 individuals, compared to 87 children (both affected and unaffected) from autism families (corresponding to Supplementary Data 2, 5 and 7, respectively). Control samples and discovery curves were computed for both African (AFR) and non-African (non-AFR) controls. b The inclusion of additional population controls refined the rare SV candidate pool, reducing the number of rare SVs (black) from 663 to 202, thus reducing the number of SVs under consideration from 97% to 99% (red). Source data are provided as a Source Data file.

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