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[Preprint]. 2022 Mar 24:2022.03.23.485509. [Version 1] doi: 10.1101/2022.03.23.485509

Figure 2. Application of scaled PhIP-Seq to expanded APS1 and healthy control cohorts.

Figure 2.

A) Number of hits per sample reaching 5, 10, 25, 50, and 100-fold enrichment relative to mock-IP samples. Each dot represents a single APS1 patient (green) or non-APS1 control (grey). B) When looking for disease-specific hits, increasing the number of healthy controls results in fewer apparent hits and is therefore critical. Shared hits are defined as gene-level signal (>10-fold change over mock-IP) which is shared among 10% of APS1 samples (n=128), present in fewer than 2% of healthy controls, and with at least 1 APS1 sample with a high signal (FC of 50<). Random downsampling was performed 10 times for each healthy control bin. C) 9 gene-level hits are present in 10%< of a combined 3-group APS1 cohort. North-America-1, n = 62; Sweden, n = 40; North-America-2, n = 26. Anti-GFAP control antibody (n=5) indicates that results are consistent across plates and exhibit no well-to-well contamination.