FigureĀ 1.
Sequencing results for 41 patients with chronic or persistent ITP. Each row represents an individual subject. In total, there were 16 pathogenic variants (9 in genes implicated in IEIs, 1 variant associated with congenital thrombocytopenia, and 6 associated with miscellaneous disorders, such as primary ciliary dyskinesia and inborn errors of metabolism) and 288 VUSs. The commercial analytics pipeline reported 239 VUSs (green). Of the 23 commercially reported pathogenic or likely pathogenic variants, 8 were reclassified as VUSs by the research team (blue). The remaining 15 were assessed as pathogenic or likely pathogenic in agreement with the commercial interpretation (orange). The research team also identified 1 disease-causing pathogenic mutation associated with congenital thrombocytopenia (TUBB1) that was curated as a VUS by the commercial pipeline (red). An additional 42 VUSs (purple) were identified by the in-house analytics pipeline and not reported by the commercial analytics pipeline. P/LP, pathogenic or likely pathogenic.

Sequencing results for 41 patients with chronic or persistent ITP. Each row represents an individual subject. In total, there were 16 pathogenic variants (9 in genes implicated in IEIs, 1 variant associated with congenital thrombocytopenia, and 6 associated with miscellaneous disorders, such as primary ciliary dyskinesia and inborn errors of metabolism) and 288 VUSs. The commercial analytics pipeline reported 239 VUSs (green). Of the 23 commercially reported pathogenic or likely pathogenic variants, 8 were reclassified as VUSs by the research team (blue). The remaining 15 were assessed as pathogenic or likely pathogenic in agreement with the commercial interpretation (orange). The research team also identified 1 disease-causing pathogenic mutation associated with congenital thrombocytopenia (TUBB1) that was curated as a VUS by the commercial pipeline (red). An additional 42 VUSs (purple) were identified by the in-house analytics pipeline and not reported by the commercial analytics pipeline. P/LP, pathogenic or likely pathogenic.

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