Fig 1.
Samples assessed by each panel.
Thirty two bone marrow patient samples (17 AML, 7 MPN, 6 MDS, and 2 CMML) were sequenced: 17 were assessed with TSMP (Illumina, San Diego, CA, USA), 16 with SureSeq panels (Oxford Gene Technology, Oxford, UK) panel, 15 with MYS panel (SOPHiA GENETICS, Saint Sulpice, Switzerland) panel, and all 32 were tested with the custom PMP.
Fig 2.
Genes covered by each panel and their clinical relevance.
The 62 genes included in the present study are listed on the right. Black color denotes which gene is covered in each panel. Green color highlights the 53 genes that have been described as clinically relevant for MN, since they show diagnostic, prognostic and/or predictive value, or they have been related to predisposition to develop MN. Red color represents genes that are not clinically relevant in MN. Grey color marks those genes that has been described in MN but their clinical relevance is still unknown.
Table 1.
Conventional molecular testing data of patients included in the study.
Table 2.
Characteristics of panel performance.
Fig 3.
Number of genes shared between panels.
All four panels covered the same 19 genes (core myeloid gene set). TSMP, PMP and Sureseq panels design includes 4 genes not targeted by MYS. PMP, TSMP and MYS panels target 8 genes not included in SureSeq panel design. TSMP and PMP cover 9 genes that are not within MYS and SureSeq panel scope. TSMP and MYS panels cover 3 genes not included in the other two panels.
Fig 4.
The mean coverage by gene in each panel is represented in yellow (1000x) through dark red (7000x).
Fig 5.
Number of variants called by panel.
Each data point represents the number of variants called in each sample. A: Coding variants. B: Coding variants called in the core myeloid gene set. C: Clinically relevant variants. Coloured data highlight those patients with clinically relevant variants missed by any of the panels, either because those genes are not included in panel design, or because of panel issues. Each colour represents the same patient. D: Clinically relevant variants in the core myeloid gene set. Patients 7 (green), 14 (blue) and 16 (turquoise) are highlighted because they miss three clinically relevant mutations (one each).
Table 3.
Clinically relevant mutations detected by panel.